Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196083 | SCV000249953 | uncertain significance | not provided | 2017-09-06 | criteria provided, single submitter | clinical testing | The A914V variant in the COL5A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A914V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A914V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A914V as a variant of uncertain significance. |
Ambry Genetics | RCV000251071 | SCV000319649 | uncertain significance | Cardiovascular phenotype | 2019-05-02 | criteria provided, single submitter | clinical testing | The p.A914V variant (also known as c.2741C>T), located in coding exon 41 of the COL5A2 gene, results from a C to T substitution at nucleotide position 2741. The alanine at codon 914 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Illumina Clinical Services Laboratory, |
RCV000396728 | SCV000425636 | uncertain significance | Ehlers-Danlos syndrome, type 7A | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000457016 | SCV000547884 | likely benign | Ehlers-Danlos syndrome, classic type | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000457016 | SCV000895374 | uncertain significance | Ehlers-Danlos syndrome, classic type | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000196083 | SCV001153242 | uncertain significance | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001143727 | SCV001304276 | likely benign | Ehlers-Danlos syndrome classic type 2 | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |