ClinVar Miner

Submissions for variant NC_000019.9:g.(?_49684596)_(49694040_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365092 SCV001561328 uncertain significance Progressive familial heart block type IB 2020-02-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 10-16 of the TRPM4 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with TRPM4-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPM4 cause disease. 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.

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