ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)

gnomAD frequency: 0.01268  dbSNP: rs34396614
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000039788 SCV000051575 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039788 SCV000063477 benign not specified 2012-04-04 criteria provided, single submitter clinical testing Pro144Ala in Exon 03 of MYLK2: This variant is not expected to have clinical sig nificance because it has been identified in 2.0% (137/7018) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs34396614).
GeneDx RCV000039788 SCV000170576 benign not specified 2014-03-10 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.
Invitae RCV000205159 SCV000261623 benign Hypertrophic cardiomyopathy 1 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000205159 SCV001141228 likely benign Hypertrophic cardiomyopathy 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000205159 SCV001159092 benign Hypertrophic cardiomyopathy 1 2023-08-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000030331 SCV001333471 benign Cardiomyopathy 2019-04-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436924 SCV004152565 benign not provided 2024-02-01 criteria provided, single submitter clinical testing MYLK2: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003964820 SCV004789906 benign MYLK2-related condition 2019-03-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030331 SCV000052998 benign Cardiomyopathy 2013-12-09 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000039788 SCV001930483 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039788 SCV001959027 benign not specified no assertion criteria provided clinical testing

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