ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)

gnomAD frequency: 0.00032  dbSNP: rs368822172
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000415686 SCV000440350 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.
Invitae RCV000415686 SCV000650528 likely benign Aortic aneurysm, familial thoracic 7 2024-01-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000592069 SCV000705421 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000311628 SCV000739260 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-18 criteria provided, single submitter clinical testing The p.R86W variant (also known as c.256C>T), located in coding exon 2 of the MYLK gene, results from a C to T substitution at nucleotide position 256. The arginine at codon 86 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in a brain arteriovenous malformation cohort and an ischemic stroke cohort (Zhang M et al. J Neurointerv Surg, 2021 Jun;13:568-573; Alkhamis FA et al. Funct Integr Genomics, 2023 Mar;23:102). This amino acid position is highly 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000311628 SCV000900728 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000592069 SCV001783491 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000592069 SCV004226154 uncertain significance not provided 2022-11-02 criteria provided, single submitter clinical testing BS1
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415686 SCV000493773 uncertain significance Aortic aneurysm, familial thoracic 7 2015-09-26 no assertion criteria provided clinical testing

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