ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) (rs146526977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150763 SCV000198240 uncertain significance not specified 2013-11-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu2623Lys vari ant has not been previously reported in individuals with hearing loss, but has b een identified in 0.05% (2/4078) of African American chromosomes by the NHLBI Ex ome Sequencing Project and in 1% (2/192) of Luhya (Kenya) chromosomes by the 100 0 Genomes Project (; dbSNP rs146526977). Howeve r, these frequencies are not high enough to rule out a pathogenic role. Computat ional analyses (biochemical amino acid properties, conservation, AlignGVGD, Poly Phen2, and SIFT) do not provide strong support for or against an impact to the p rotein. In summary, the clinical significance of this variant cannot be determin ed with certainty; however based upon its frequency in the Luhya population, we would lean towards a more likely benign role.
Illumina Clinical Services Laboratory,Illumina RCV001157104 SCV001318650 uncertain significance Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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