ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.901C>A (p.Gln301Lys)

gnomAD frequency: 0.00001  dbSNP: rs545515041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696974 SCV000825560 uncertain significance Aortic aneurysm, familial thoracic 7 2022-07-12 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with MYLK-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 301 of the MYLK protein (p.Gln301Lys). ClinVar contains an entry for this variant (Variation ID: 574914). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYLK protein function.

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