ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys)

dbSNP: rs748529935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680553 SCV000807965 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001224467 SCV001396661 uncertain significance Aortic aneurysm, familial thoracic 4 2019-05-23 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1540 of the MYH11 protein (p.Ser1540Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 561305). This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002334240 SCV002637560 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-10-29 criteria provided, single submitter clinical testing The p.S1533C variant (also known as c.4598C>G), located in coding exon 32 of the MYH11 gene, results from a C to G substitution at nucleotide position 4598. The serine at codon 1533 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, cysteine is the reference amino acid in other vertebrate species. 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.

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