ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.3339_3342del (p.Ser1114fs)

dbSNP: rs1054561100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937695 SCV002179673 uncertain significance Progressive familial heart block type IB 2021-01-28 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. This variant has not been reported in the literature in individuals with TRPM4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1114Argfs*8) in the TRPM4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPM4 cause disease.
Fulgent Genetics, Fulgent Genetics RCV002507020 SCV002813465 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303366 SCV003998400 uncertain significance Cardiovascular phenotype 2023-06-14 criteria provided, single submitter clinical testing The c.3339_3342delTTCT variant, located in coding exon 22 of the TRPM4 gene, results from a deletion of 4 nucleotides at nucleotide positions 3339 to 3342, causing a translational frameshift with a predicted alternate stop codon (p.S1114Rfs*8). This alteration is expected to result in protein truncation or nonsense-mediated mRNA decay. However, loss of function of TRPM4 has not been established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001937695 SCV004807099 uncertain significance Progressive familial heart block type IB 2024-03-26 criteria provided, single submitter clinical testing

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