ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.566C>T (p.Ala189Val)

gnomAD frequency: 0.00024  dbSNP: rs145501662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522197 SCV000620732 uncertain significance not provided 2023-07-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000522197 SCV001470971 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing The TRPM4 c.566C>T; p.Ala189Val variant (rs145501662), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 451962). This variant is found in the African population with an allele frequency of 0.084% (21/24938 alleles) in the Genome Aggregation Database. The alanine at codon 189 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Ala189Val variant is uncertain at this time.
Invitae RCV001461189 SCV001665075 likely benign Progressive familial heart block type IB 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350153 SCV002653813 uncertain significance Cardiovascular phenotype 2023-06-23 criteria provided, single submitter clinical testing The p.A189V variant (also known as c.566C>T), located in coding exon 5 of the TRPM4 gene, results from a C to T substitution at nucleotide position 566. The alanine at codon 189 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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