ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2564C>T (p.Ala855Val)

dbSNP: rs886057863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364908 SCV000440314 uncertain significance Aortic aneurysm, familial thoracic 7 2018-01-12 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.
Ambry Genetics RCV002429305 SCV002740244 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-10-30 criteria provided, single submitter clinical testing The p.A855V variant (also known as c.2564C>T), located in coding exon 15 of the MYLK gene, results from a C to T substitution at nucleotide position 2564. The alanine at codon 855 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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.

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