ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp)

gnomAD frequency: 0.00002  dbSNP: rs567938424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864593 SCV001005413 likely benign Progressive familial heart block type IB 2023-09-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000864593 SCV001291330 uncertain significance Progressive familial heart block type IB 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001570880 SCV001795248 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 697632; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002453950 SCV002614420 uncertain significance Cardiovascular phenotype 2021-05-17 criteria provided, single submitter clinical testing The p.S1126W variant (also known as c.3377C>G), located in coding exon 22 of the TRPM4 gene, results from a C to G substitution at nucleotide position 3377. The serine at codon 1126 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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