ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) (rs375921325)

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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,Partners HealthCare 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: // 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724387 SCV000228734 uncertain significance not provided 2015-01-16 criteria provided, single submitter clinical testing
Invitae RCV000724387 SCV001537753 uncertain significance not provided 2020-09-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2148 of the ADGRV1 protein (p.Ala2148Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs375921325, ExAC 0.1%). This variant has not been reported in the literature in individuals with ADGRV1-related disease. ClinVar contains an entry for this variant (Variation ID: 46353). Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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