ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.6C>G (p.Ser2Arg)

dbSNP: rs1862252357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067397 SCV001232457 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 2 of the TRPC6 protein (p.Ser2Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. 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. This variant has not been reported in the literature in individuals with TRPC6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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