ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) (rs139000120)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680577 SCV000807993 uncertain significance Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769345 SCV000900729 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-11 criteria provided, single submitter clinical testing
Invitae RCV001236066 SCV001408778 uncertain significance Aortic aneurysm, familial thoracic 7 2019-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 77 of the MYLK protein (p.Gly77Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs139000120, ExAC 0.002%). 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.

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