ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val)

gnomAD frequency: 0.00003  dbSNP: rs757392371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519402 SCV000621672 uncertain significance not provided 2020-09-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV002525244 SCV003289507 uncertain significance Aortic aneurysm, familial thoracic 7 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1448 of the MYLK protein (p.Asp1448Val). This variant is present in population databases (rs757392371, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 452831). 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 with a negative predictive value of 80%. 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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