ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)

gnomAD frequency: 0.00019  dbSNP: rs138265409
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001170679 SCV000319909 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-08 criteria provided, single submitter clinical testing The p.R86Q variant (also known as c.257G>A), located in coding exon 2 of the MYLK gene, results from a G to A substitution at nucleotide position 257. The arginine at codon 86 is replaced by glutamine, an amino acid with highly similar properties. 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.
Illumina Laboratory Services, Illumina RCV000554596 SCV000440349 uncertain significance Aortic aneurysm, familial thoracic 7 2018-01-13 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.
GeneDx RCV000727292 SCV000573793 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000554596 SCV000650529 likely benign Aortic aneurysm, familial thoracic 7 2024-01-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727292 SCV000707299 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727292 SCV000884202 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing The MYLK c.257G>A; p.Arg86Gln variant (rs138265409, ClinVar variant ID 264174), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.03% (identified on 8 out of 24,028 chromosomes). The arginine at position 86 is weakly conserved, considering 12 species, and computational analyses of the effects of the p.Arg86Gln variant on protein structure and function make conflicting predictions (SIFT: tolerated, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Arg86Gln variant cannot be determined with certainty.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170679 SCV001333273 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727292 SCV001501858 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265713 SCV002547625 likely benign not specified 2022-05-28 criteria provided, single submitter clinical testing

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