ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile)

gnomAD frequency: 0.00001  dbSNP: rs961194527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541861 SCV000650508 uncertain significance Aortic aneurysm, familial thoracic 7 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 343 of the MYLK protein (p.Ser343Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 471697). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002315005 SCV000739343 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-14 criteria provided, single submitter clinical testing The p.S343I variant (also known as c.1028G>T), located in coding exon 7 of the MYLK gene, results from a G to T substitution at nucleotide position 1028. The serine at codon 343 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003884628 SCV004700660 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing MYLK: PM2, BP4

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