ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp)

gnomAD frequency: 0.00001  dbSNP: rs372019566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068068 SCV001233157 uncertain significance Aortic aneurysm, familial thoracic 7 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 805 of the MYLK protein (p.Cys805Trp). This variant is present in population databases (rs372019566, 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: 861522). 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 RCV001759842 SCV002007435 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002445351 SCV002733771 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-06-22 criteria provided, single submitter clinical testing The p.C805W variant (also known as c.2415C>G), located in coding exon 14 of the MYLK gene, results from a C to G substitution at nucleotide position 2415. The cysteine at codon 805 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002480428 SCV002777447 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-09-01 criteria provided, single submitter clinical testing

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