ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1486C>G (p.Leu496Val)

gnomAD frequency: 0.99852  dbSNP: rs9833275
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222054 SCV000269289 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Leu496Val in exon 11 of MYLK: This variant is not expected to have clinical sign ificance because it has been identified in 100.0% (362/362) of mixed American ch romosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.n lm.nih.gov/projects/SNP; dbSNP rs9833275).
Preventiongenetics, part of Exact Sciences RCV000222054 SCV000315270 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000614418 SCV000440328 benign Aortic aneurysm, familial thoracic 7 2018-01-12 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.
GeneDx RCV000222054 SCV000524351 benign not specified 2016-09-22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589856 SCV000604372 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589856 SCV000699790 benign not provided 2016-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000358452 SCV000738289 benign Familial thoracic aortic aneurysm and aortic dissection 2014-12-30 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 RCV000358452 SCV000900723 benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000614418 SCV001136586 benign Aortic aneurysm, familial thoracic 7 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000614418 SCV001728577 benign Aortic aneurysm, familial thoracic 7 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000614418 SCV002015838 benign Aortic aneurysm, familial thoracic 7 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778799 SCV002015839 benign Megacystis, microcolon, hypoperistalsis syndrome 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614418 SCV000734241 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000222054 SCV001806930 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000222054 SCV001958315 benign not specified no assertion criteria provided clinical testing

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