ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4194C>T (p.His1398=)

gnomAD frequency: 0.02481  dbSNP: rs17298941
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Total submissions: 14
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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 RCV000217763 SCV000269305 benign not specified 2013-04-04 criteria provided, single submitter clinical testing His1398His in exon 24 of MYLK: 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 3.9% (339/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17298941).
PreventionGenetics, part of Exact Sciences RCV000217763 SCV000315296 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000462804 SCV000440285 benign Aortic aneurysm, familial thoracic 7 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.
GeneDx RCV000217763 SCV000525869 benign not specified 2016-09-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000462804 SCV000560697 benign Aortic aneurysm, familial thoracic 7 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315648 SCV000738321 benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812228 SCV000884194 benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000217763 SCV001361252 benign not specified 2019-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812228 SCV005303590 benign not provided criteria provided, single submitter not provided
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000217763 SCV006066527 benign not specified 2025-04-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000217763 SCV001808347 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000217763 SCV001930752 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000217763 SCV001952643 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000217763 SCV001972290 benign not specified no assertion criteria provided clinical testing

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