ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys) (rs201210744)

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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 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 (; dbSNP rs201210744) .
Invitae RCV001366393 SCV001562694 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 2081 of the ADGRV1 protein (p.Ser2081Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs201210744, ExAC 0.1%). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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