ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.169G>C (p.Val57Leu)

dbSNP: rs750590052
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002622 SCV001160604 uncertain significance Progressive familial heart block type IB 2019-06-11 criteria provided, single submitter clinical testing The TRPM4 c.169G>C; p.Val57Leu variant (rs750590052), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 57 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Val57Leu variant is uncertain at this time.

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