ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1993_1999del (p.Ala665fs)

dbSNP: rs751139020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933811 SCV002202582 uncertain significance Progressive familial heart block type IB 2022-06-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is present in population databases (rs751139020, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ala665Leufs*10) 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002507599 SCV002815216 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2022-04-15 criteria provided, single submitter clinical testing

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