Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001813038 | SCV001473336 | likely benign | not provided | 2019-09-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003294186 | SCV003999111 | uncertain significance | Cardiovascular phenotype | 2021-08-16 | criteria provided, single submitter | clinical testing | The c.2766C>A (p.I922I) alteration is located in exon 18 (coding exon 18) of the TRPM4 gene. This alteration consists of a C to A substitution at nucleotide position 2766. This nucleotide substitution does not change the amino acid at codon 922. However, this change occurs in the last nucleotide of Exon 18 (c.2646_2778) 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. |
| Labcorp Genetics |
RCV003770445 | SCV004640078 | uncertain significance | Progressive familial heart block type IB | 2023-02-20 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 994044). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. This variant is present in population databases (rs774680517, gnomAD 0.003%). This sequence change affects codon 922 of the TRPM4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TRPM4 protein. |