ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1050G>A (p.Gln350=)

gnomAD frequency: 0.00007  dbSNP: rs542569450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238008 SCV001410802 uncertain significance Progressive familial heart block type IB 2022-12-16 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 963901). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is present in population databases (rs542569450, gnomAD 0.02%). This sequence change affects codon 350 of the TRPM4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TRPM4 protein. This variant also falls at the last nucleotide of exon 8, which is part of the consensus splice site for this exon.
Fulgent Genetics, Fulgent Genetics RCV002491771 SCV002794121 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034566 SCV004971100 uncertain significance Cardiovascular phenotype 2022-02-24 criteria provided, single submitter clinical testing The c.1050G>A (p.Q350Q) alteration is located in exon 8 (coding exon 8) of the TRPM4 gene. This alteration consists of a G to A substitution at nucleotide position 1050. This nucleotide substitution does not change the amino acid at codon 350. However, this change occurs in the last nucleotide of Exon 8 (c.859_1050) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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