ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr)

dbSNP: rs35156360
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220504 SCV001392498 likely benign Aortic aneurysm, familial thoracic 7 2024-12-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799052 SCV002043652 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001799052 SCV002691595 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-04-23 criteria provided, single submitter clinical testing The p.P443T variant (also known as c.1327C>A), located in coding exon 8 of the MYLK gene, results from a C to A substitution at nucleotide position 1327. The proline at codon 443 is replaced by threonine, an amino acid with highly similar properties. This alteration has been reported in a sudden infant death syndrome (SIDS) cohort and a thoracic aortic aneurysm and dissection (TAAD) (Neubauer J et al. Eur J Hum Genet, 2017 Apr;25:404-409; Li J et al. Mol Genet Genomic Med, 2021 Oct;9:e1800). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481002 SCV004226152 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing BS1
GeneDx RCV003481002 SCV005334413 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing Identified in a patient with thoracic aortic aneurysm and dissection (TAAD) in published literature (PMID: 34498425); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34498425)

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