ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys)

gnomAD frequency: 0.00026  dbSNP: rs201210744
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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,Mass General Brigham Personalized Medicine RCV000039605 SCV000063294 likely benign not specified 2013-01-29 criteria provided, single submitter clinical testing Ser2081Cys in exon 28 of GPR98: This variant is not expected to have clinical si gnificance because serine (Ser) at position 2081 is not conserved in mammals or evolutionarily distant species and the change to cysteine (Cys) is present in ka ngaroo rat. In addition, this variant has been identified in 0.13%% (5/3702) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201210744) .
Invitae RCV001366393 SCV001562694 uncertain significance not provided 2021-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2081 of the ADGRV1 protein (p.Ser2081Cys). This variant is present in population databases (rs201210744, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 46349). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001366393 SCV002107352 likely benign not provided 2021-09-18 criteria provided, single submitter clinical testing

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