ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) (rs35912339)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757536 SCV000885796 likely benign not provided 2018-05-04 criteria provided, single submitter clinical testing The c.1007C>T; p.Pro336Leu variant (rs35912339, ClinVar variant ID 193752), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with a South Asian population frequency of 0.4% (identified on 120 out of 30,782 chromosomes). The proline at position 336 is weakly conserved, considering 12 species, and computational analyses of the effects of the p.Pro336Leu variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the p.Pro336Leu variant is likely to be benign.
Ambry Genetics RCV000241731 SCV000319547 likely benign Cardiovascular phenotype 2018-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769342 SCV000900725 likely benign Thoracic aortic aneurysm and aortic dissection 2016-07-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000680576 SCV000807991 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173911 SCV000225087 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000173911 SCV000530487 likely benign not specified 2017-11-02 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 RCV000231828 SCV000291185 benign Aortic aneurysm, familial thoracic 7 2018-01-10 criteria provided, single submitter clinical testing

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