ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) (rs145294917)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150771 SCV000198263 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly3599Ala in Exon 52 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.4% (40/2958) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs145294917).
GeneDx RCV000766759 SCV000589906 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing The G3599A variant in the ADGRV1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G3599A variant is observed in 124/9724 (1.3%) alleles from individuals of African background in large population cohorts with no homozygous control individuals reported (Lek et al., 2016). The G3599A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G3599A as a variant of uncertain significance.
Invitae RCV000766759 SCV001112181 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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