ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn)

gnomAD frequency: 0.00001  dbSNP: rs749069560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457297 SCV000550014 likely benign Aortic aneurysm, familial thoracic 7 2023-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313175 SCV000739338 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-01 criteria provided, single submitter clinical testing The p.T582N variant (also known as c.1745C>A), located in coding exon 10 of the MYLK gene, results from a C to A substitution at nucleotide position 1745. The threonine at codon 582 is replaced by asparagine, an amino acid with similar properties. This amino acid position is 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.
Illumina Laboratory Services, Illumina RCV000457297 SCV001307065 uncertain significance Aortic aneurysm, familial thoracic 7 2018-03-30 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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