ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) (rs186999408)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039607 SCV000063296 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala2106Val in Exon 29 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (22/3118) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039607 SCV000228732 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000039607 SCV000321753 uncertain significance not specified 2016-07-20 criteria provided, single submitter clinical testing The A2106V variant in the ADGRV1 gene has been reported previously in one individual with Usher syndrome; however, no information was provided about the presence or absence of any co-occurring variants in ADGRV1 or other Usher-related genes (Le Quesne et al., 2012). While not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports A2106V was observed in 27/3810 (0.71%) alleles from individuals of African American background, indicating it may be a rare variant in this population. The A2106V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A2106V as a variant of uncertain significance.
Invitae RCV000903694 SCV001048174 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000903694 SCV001154439 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155314 SCV001316736 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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