ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys)

gnomAD frequency: 0.00003  dbSNP: rs547322504
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000866251 SCV000722057 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25944730, 26133393)
Ambry Genetics RCV002315916 SCV000739319 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-03-14 criteria provided, single submitter clinical testing The p.R705C variant (also known as c.2113C>T), located in coding exon 12 of the MYLK gene, results from a C to T substitution at nucleotide position 2113. The arginine at codon 705 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been identified in two cohorts of patients with suspected aortopathy; however, clinical details are limited (Wooderchak-Donahue W et al. Am. J. Med. Genet. A, 2015 Aug;167A:1747-57; Zarate YA et al. Genet. Med., 2016 Apr;18:356-63). This amino acid position is not well 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 RCV001860297 SCV002244739 likely benign Aortic aneurysm, familial thoracic 7 2023-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330826 SCV004039018 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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