ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1839G>C (p.Lys613Asn)

gnomAD frequency: 0.00007  dbSNP: rs754374723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809016 SCV000949152 uncertain significance Aortic aneurysm, familial thoracic 4 2021-10-28 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 620 of the MYH11 protein (p.Lys620Asn). This variant is present in population databases (rs754374723, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 653272). 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: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002406814 SCV002715062 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-30 criteria provided, single submitter clinical testing The p.K613N variant (also known as c.1839G>C), located in coding exon 14 of the MYH11 gene, results from a G to C substitution at nucleotide position 1839. The lysine at codon 613 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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.
GeneDx RCV003442095 SCV004170140 uncertain significance not provided 2023-04-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV002406814 SCV004359441 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces lysine with asparagine at codon 620 of the MYH11 protein. Computational prediction indicates that this variant may have a neutral impact on protein structure and function. 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 18/251490 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.

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