Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000248294 | SCV000319517 | uncertain significance | Cardiovascular phenotype | 2015-03-17 | criteria provided, single submitter | clinical testing | The p.K1107T variant (also known as c.3320A>C), located in coding exon 24 of the MYH7 gene, results from an A to C substitution at nucleotide position 3320. The lysine at codon 1107 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV002518704 | SCV003004381 | uncertain significance | Hypertrophic cardiomyopathy | 2022-02-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MYH7-related conditions. 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 263955). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1107 of the MYH7 protein (p.Lys1107Thr). |