Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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. |