Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002357069 | SCV002652544 | uncertain significance | Cardiovascular phenotype | 2022-09-12 | criteria provided, single submitter | clinical testing | The p.A1965D variant (also known as c.5894C>A), located in coding exon 8 of the ALMS1 gene, results from a C to A substitution at nucleotide position 5894. The alanine at codon 1965 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is not well 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. |
Gene |
RCV003317470 | SCV004021604 | uncertain significance | not provided | 2023-07-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Natera, |
RCV001278760 | SCV001465792 | uncertain significance | Alstrom syndrome | 2020-08-13 | no assertion criteria provided | clinical testing |