ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11887G>A (p.Gly3963Ser)

gnomAD frequency: 0.00001  dbSNP: rs748324530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044685 SCV001208492 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 842291). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 31054281). This variant is present in population databases (rs748324530, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3963 of the ADGRV1 protein (p.Gly3963Ser).

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