ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) (rs756054110)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000469767 SCV000897059 uncertain significance Aortic aneurysm, familial thoracic 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000469767 SCV000550033 uncertain significance Aortic aneurysm, familial thoracic 7 2017-06-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 995 of the MYLK protein (p.Asn995Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs756054110, ExAC 0.002%). This variant has not been reported in the literature in individuals with MYLK-related disease. ClinVar contains an entry for this variant (Variation ID: 409700). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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