ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.202C>T (p.Arg68Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002943505 SCV003279098 uncertain significance not provided 2022-04-12 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects TRPC6 function (PMID: 26147534). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with focal segmental glomerulosclerosis (PMID: 26147534). This variant is present in population databases (rs754919065, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 68 of the TRPC6 protein (p.Arg68Trp).
PreventionGenetics, part of Exact Sciences RCV003409990 SCV004106288 uncertain significance TRPC6-related disorder 2023-07-12 criteria provided, single submitter clinical testing The TRPC6 c.202C>T variant is predicted to result in the amino acid substitution p.Arg68Trp. This variant was reported in three individuals from a family with hematuria, proteinuria or FSGS, but was also observed in asymptomatic individuals (Sun et al 2015. PubMed ID: 26147534). This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-101375498-G-A). 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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