ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)

gnomAD frequency: 0.00022  dbSNP: rs375921325
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Total submissions: 4
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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 RCV000039609 SCV000063298 likely benign not specified 2013-02-19 criteria provided, single submitter clinical testing Ala2148Val in exon 29 of GPR98: This variant is not expected to have clinical si gnificance because it is has been identified in 3/3124 (0.09%) African American chromosomes from a broad population by the NHLBI Exome sequencing project (http: //evs.gs.washington.edu/EVS/) and due to a lack of conservation across species, including mammals. Of note, possum has a valine (Val) at this position despite h igh nearby amino acid conservation. In addition, this variant has now been ident ified in our laboratory in two individuals, neither of whom had a second GPR98 v ariant.
Eurofins NTD LLC (GA) RCV000724387 SCV000228734 uncertain significance not provided 2015-01-16 criteria provided, single submitter clinical testing
Invitae RCV000724387 SCV001537753 uncertain significance not provided 2021-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2148 of the ADGRV1 protein (p.Ala2148Val). This variant is present in population databases (rs375921325, gnomAD 0.08%). 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: 46353). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV000724387 SCV002498919 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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