ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) (rs142421063)

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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 RCV000617051 SCV000319494 uncertain significance Cardiovascular phenotype 2016-01-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Illumina Clinical Services Laboratory,Illumina RCV000249225 SCV000440293 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000793618 SCV000932980 uncertain significance Aortic aneurysm, familial thoracic 7 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1204 of the MYLK protein (p.Arg1204Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs142421063, ExAC 0.02%). This variant has not been reported in the literature in individuals with MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 263940). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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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