ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.101T>C (p.Met34Thr)

dbSNP: rs758531773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336715 SCV001530177 uncertain significance Focal segmental glomerulosclerosis 2 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546791 SCV002986704 uncertain significance not provided 2022-06-14 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. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1034101). This variant has not been reported in the literature in individuals affected with TRPC6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 34 of the TRPC6 protein (p.Met34Thr).

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