ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) (rs191036195)

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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 RCV000223316 SCV000271820 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing The p.Val2524Glu variant in GPR98 has not been previously reported in individual s with hearing loss, but has been identified in 2/67672 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs191036195). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analyses do not provide strong support for or agai nst an impact to the protein. In summary, the clinical significance of the Val25 24Glu variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000765843 SCV000897239 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001207709 SCV001379074 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 2524 of the ADGRV1 protein (p.Val2524Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is present in population databases (rs191036195, ExAC 0.009%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 228723). 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.

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