ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4349A>G (p.Lys1450Arg) (rs372188446)

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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 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 2020-10-07 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1450 of the ADGRV1 protein (p.Lys1450Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs372188446, ExAC 0.08%). This variant 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, suggesting that this missense change does not adversely affect protein function. 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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