ClinVar Miner

Submissions for variant NM_012471.3(TRPC5):c.2081G>A (p.Arg694His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004146083 SCV003620064 likely benign not specified 2022-05-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003410180 SCV004116266 uncertain significance TRPC5-related disorder 2024-07-01 no assertion criteria provided clinical testing The TRPC5 c.2081G>A variant is predicted to result in the amino acid substitution p.Arg694His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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