ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) (rs41311625)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039557 SCV000063246 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Leu6249Arg in Exon 89 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (24/3090) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs41311625).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039557 SCV000340152 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000039557 SCV000589703 uncertain significance not specified 2017-06-05 criteria provided, single submitter clinical testing The L6249R variant in the ADGRV1 gene has has been reported previously as an unclassified, likely neutral variant in association with Usher syndrome (Le Quesne Stabej et al., 2012). The L6249R variant is observed in 69/8522 (0.81%) alleles from individuals of African background in large population cohorts with no homozygous control individuals reported (Lek et al., 2016). The L6249R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Although 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 L6249R as a variant of uncertain significance.
Invitae RCV000903077 SCV001047528 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153546 SCV001314841 uncertain significance Usher syndrome, type 2C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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