Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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 |
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, |
RCV000311628 | SCV000900728 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592069 | SCV001783491 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000592069 | SCV004226154 | uncertain significance | not provided | 2022-11-02 | criteria provided, single submitter | clinical testing | BS1 |
Knight Diagnostic Laboratories, |
RCV000415686 | SCV000493773 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2015-09-26 | no assertion criteria provided | clinical testing |