ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4349A>G (p.Lys1450Arg)

gnomAD frequency: 0.00006  dbSNP: rs372188446
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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 RCV000039584 SCV000063273 likely benign not specified 2011-01-07 criteria provided, single submitter clinical testing Lys1450Arg in exon 20 of GPR98: This variant is not expected to have clinical si gnificance because this residue is not highly conserved across species. Of note, rabbit has an arginine at this position.
Invitae RCV001323987 SCV001514926 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1450 of the ADGRV1 protein (p.Lys1450Arg). This variant is present in population databases (rs372188446, gnomAD 0.2%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 26667666). ClinVar contains an entry for this variant (Variation ID: 46328). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001323987 SCV001755980 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26667666)

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