ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12721G>A (p.Ala4241Thr) (rs727504627)

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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 RCV000155887 SCV000205598 likely benign not specified 2013-10-05 criteria provided, single submitter clinical testing Ala4241Thr in Exon 63 of GPR98: This variant is not expected to have clinical si gnificance due to a low conservation across species, including mammals. In addit ion, computational analyses (biochemical amino acid properties, conservation, Al ignGVGD, PolyPhen2, and SIFT) suggest that the variant may not impact the protei n.
Invitae RCV001339539 SCV001533290 uncertain significance not provided 2020-02-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 4241 of the ADGRV1 protein (p.Ala4241Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 179102). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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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