Total submissions: 9
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, |
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. |
Gene |
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 |
RCV000727292 | SCV000707299 | uncertain significance | not provided | 2017-04-06 | criteria provided, single submitter | clinical testing | |
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, |
RCV001170679 | SCV001333273 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727292 | SCV001501858 | uncertain significance | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265713 | SCV002547625 | likely benign | not specified | 2022-05-28 | criteria provided, single submitter | clinical testing |