ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser)

dbSNP: rs928811814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000578292 SCV000680309 likely pathogenic Aortic aneurysm, familial thoracic 7 2017-11-08 criteria provided, single submitter clinical testing
GeneDx RCV001755964 SCV002007000 uncertain significance not provided 2021-04-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 488557; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614)
Invitae RCV000578292 SCV003258408 uncertain significance Aortic aneurysm, familial thoracic 7 2022-01-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 441 of the MYLK protein (p.Pro441Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 488557). 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. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001755964 SCV004226153 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing

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