ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) (rs377231739)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619064 SCV000739340 likely benign Cardiovascular phenotype 2017-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000599907 SCV000715404 likely benign not specified 2017-01-25 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 RCV000231358 SCV000291199 uncertain significance Aortic aneurysm, familial thoracic 7 2018-08-24 criteria provided, single submitter clinical testing This sequence change affects codon 1281 of the MYLK mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYLK protein. This variant is present in population databases (rs377231739, ExAC 0.04%) but has not been reported in the literature in individuals with a MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 241760). Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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