ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1005C>T (p.Thr335=)

gnomAD frequency: 0.59203  dbSNP: rs4678047
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Total submissions: 13
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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 RCV000215397 SCV000269287 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Thr335Thr in exon 10 of MYLK: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 39.2% (1727/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4678047).
Preventiongenetics, part of Exact Sciences RCV000215397 SCV000315268 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000601909 SCV000440332 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 RCV000215397 SCV000525637 benign not specified 2016-09-23 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.
Ambry Genetics RCV002315642 SCV000738288 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000215397 SCV001361514 benign not specified 2019-08-09 criteria provided, single submitter clinical testing
Invitae RCV000601909 SCV001728578 benign Aortic aneurysm, familial thoracic 7 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000601909 SCV002015840 benign Aortic aneurysm, familial thoracic 7 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778798 SCV002015842 benign Megacystis, microcolon, hypoperistalsis syndrome 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601909 SCV000734242 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000215397 SCV001808331 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000215397 SCV001952634 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000215397 SCV001967386 benign not specified no assertion criteria provided clinical testing

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