ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)

gnomAD frequency: 0.00010  dbSNP: rs201180985
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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 RCV000218086 SCV000270241 likely benign not specified 2015-07-01 criteria provided, single submitter clinical testing p.Ala156Thr in exon 5 of GPR98: This variant is not expected to have clinical si gnificance because the alanine (Ala) residue at position 156 is not conserved th rough species, with >10 mammals having a threonine (Thr) at this position. In ad dition, it has been identified in 0.2% (17/7556) of South Asian chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2 01180985).
Invitae RCV001231185 SCV001403696 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 156 of the ADGRV1 protein (p.Ala156Thr). This variant is present in population databases (rs201180985, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 227406). 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 threonine 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.
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital RCV000218086 SCV001984590 likely benign not specified 2020-02-25 criteria provided, single submitter clinical testing

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