ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) (rs200423083)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648740 SCV000770561 uncertain significance Aortic aneurysm, familial thoracic 7 2018-08-13 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 1011 of the MYLK protein (p.Ser1011Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs200423083, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with MYLK-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Human Genetics, Inc RCV000680572 SCV000807987 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing

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