ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2546A>C (p.His849Pro)

gnomAD frequency: 0.00001  dbSNP: rs572920924
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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 RCV001348268 SCV001542563 uncertain significance Progressive familial heart block type IB 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 849 of the TRPM4 protein (p.His849Pro). This variant is present in population databases (rs572920924, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1044070). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004036549 SCV004971109 uncertain significance Cardiovascular phenotype 2024-03-05 criteria provided, single submitter clinical testing The c.2546A>C (p.H849P) alteration is located in exon 17 (coding exon 17) of the TRPM4 gene. This alteration results from a A to C substitution at nucleotide position 2546, causing the histidine (H) at amino acid position 849 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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