Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000243370 | SCV000319347 | uncertain significance | Cardiovascular phenotype | 2015-09-22 | criteria provided, single submitter | clinical testing | The p.K1379Q variant (also known as c.4135A>C), located in coding exon 30 of the MYH11 gene, results from an A to C substitution at nucleotide position 4135. The lysine at codon 1379 is replaced by glutamine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6497 samples (12994 alleles) with coverage at this position. 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 variant remains unclear. |
Color Diagnostics, |
RCV003528162 | SCV004359367 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-06 | criteria provided, single submitter | clinical testing | This missense variant replaces lysine with glutamine at codon 1386 of the MYH11 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has been identified in 5/250608 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |