Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000249838 | SCV000319237 | uncertain significance | Cardiovascular phenotype | 2014-02-17 | criteria provided, single submitter | clinical testing | The p.A170T variant (also known as c.508G>A), located in coding exon 5 of the COL3A1 gene, results from a G to A substitution at nucleotide position 508. The alanine at codon 170 is replaced by threonine, an amino acid with some similar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.01% (1/13,006), having been observed in 0.02% (1/4406) of African American alleles and in none of 8600 European American alleles. Based on protein sequence alignment, this amino acid position is not conserved in available vertebrate species, and threonine is the reference amino acid in dolphin. 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 variant remains unclear. |
Labcorp Genetics |
RCV000868023 | SCV001009306 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001189402 | SCV001356687 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004591107 | SCV005078144 | uncertain significance | not provided | 2024-06-10 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD); Has not been previously published as pathogenic or benign to our knowledge |