ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val)

dbSNP: rs747089219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319090 SCV000336888 uncertain significance not provided 2015-11-13 criteria provided, single submitter clinical testing
Invitae RCV000319090 SCV001508820 uncertain significance not provided 2022-07-12 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine 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: 284311). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. This variant is present in population databases (rs747089219, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 5739 of the ADGRV1 protein (p.Ile5739Val).

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