ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys)

gnomAD frequency: 0.00003  dbSNP: rs369503342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055898 SCV001220313 uncertain significance Aortic aneurysm, familial thoracic 7 2023-07-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 851490). 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. This variant has not been reported in the literature in individuals affected with MYLK-related conditions. This variant is present in population databases (rs369503342, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 876 of the MYLK protein (p.Arg876Cys).
GeneDx RCV001593226 SCV001822522 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; At the protein level, in silico analysis supports that this missense variant has a deleterious effect on protein structure/function; At the RNA level, in silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 851490; Landrum et al., 2016)
Fulgent Genetics, Fulgent Genetics RCV002489644 SCV002779101 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-09-07 criteria provided, single submitter clinical testing

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