ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1743T>C (p.Ala581=)

gnomAD frequency: 0.49695  dbSNP: rs2272554
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126931 SCV000170462 benign not specified 2012-11-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000126931 SCV000269262 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ala588Ala in exon 15 of MYH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 40.6% (3489/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2272554).
PreventionGenetics, part of Exact Sciences RCV000126931 SCV000306165 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250326 SCV000317694 benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Laboratory Services, Illumina RCV001094462 SCV000395380 benign Aortic aneurysm, familial thoracic 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000621221 SCV000738286 benign Cardiovascular phenotype 2015-02-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000250326 SCV000901085 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000250326 SCV000902537 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV001094462 SCV001717667 benign Aortic aneurysm, familial thoracic 4 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094462 SCV002014384 benign Aortic aneurysm, familial thoracic 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775601 SCV002014385 benign Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775602 SCV002014386 benign Visceral myopathy 2 2021-09-05 criteria provided, single submitter clinical testing

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