ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser)

gnomAD frequency: 0.00002  dbSNP: rs1026157995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757529 SCV000885789 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458359 SCV002616499 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-12-04 criteria provided, single submitter clinical testing The p.R1205S variant (also known as c.3615G>T), located in coding exon 17 of the MYLK gene, results from a G to T substitution at nucleotide position 3615. The arginine at codon 1205 is replaced by serine, 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.
Invitae RCV002536567 SCV003271799 uncertain significance Aortic aneurysm, familial thoracic 7 2022-02-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1205 of the MYLK protein (p.Arg1205Ser). This variant is present in population databases (no rsID available, gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of thoracic aortic aneurysm and dissection (Invitae). ClinVar contains an entry for this variant (Variation ID: 618741). 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.
GeneDx RCV000757529 SCV004023116 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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