ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.830A>G (p.Asn277Ser)

gnomAD frequency: 0.00001  dbSNP: rs745524804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734959 SCV000863141 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000734959 SCV001824740 uncertain significance not provided 2019-11-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance in ClinVar by another clinical laboratory (Variation ID: 598542; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV003525959 SCV004278584 uncertain significance Aortic aneurysm, familial thoracic 7 2023-04-17 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 598542). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. This variant is present in population databases (rs745524804, gnomAD 0.001%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 277 of the MYLK protein (p.Asn277Ser).

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