The expanded SV tile offers clinical evidence and dosage sensitivity information for the variant. This includes curated variants with over 50% reciprocal overlap from ClinVar and DECIPHER, as well as ClinGen's dosage sensitivity scores.
Dosage sensitivity score (ClinGen):
The ClinGen Dosage sensitivity map is a curated list of genes and genomic regions that have been assessed by the ClinGen curation team for haploinsufficiency (sensitivity to a single copy deletions) and triplosensitivity (sensitivity to duplication). The genes and regions are scored by the level of evidence for dosage sensitivity as shown below.
The Genes and Region tab in the SV variant assessment hub displays various gene-level data points, including ClinGen's Haploinsufficiency/triplosensitivity scores , OMIM disease association data, Calculated LOF score, Decipher HI score, and pLI.
The region score only applies if a region is completely contained within the variant.
The gene score only applies to genes that have at least 10% of their genomic region affected by the variant.
In case multiple intersections are found, the maximal dosage sensitivity score is presented.
ClinVar variants
The ClinVar data that is imported to the SV’s clinical evidence is calculated based on the overlapping regions as described:
For deletions and duplication – at least 50% reciprocal overlap with the variant.
For insertions - up to 500 bps from the breakpoint
The RCV identifier of each matching variant is displayed in expanded ClinVar evidence field, with accompanying hyperlinks to the ClinVar database.
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