ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18349G>A (p.Val6117Met) (rs200062593)

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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 RCV000605282 SCV000711065 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing p.Val6117Met in exon 87 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, >10 mammals have a methionine (Met) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not sugg est a high likelihood of impact to the protein. It has also been identified in 5 /48726 European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs200062593).
Invitae RCV001045577 SCV001209440 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 6117 of the ADGRV1 protein (p.Val6117Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs200062593, ExAC 0.02%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 504589). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The methionine 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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