Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473231 | SCV000541328 | uncertain significance | Alstrom syndrome | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000473231 | SCV000794864 | uncertain significance | Alstrom syndrome | 2017-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379408 | SCV002673093 | uncertain significance | Cardiovascular phenotype | 2021-11-11 | criteria provided, single submitter | clinical testing | The p.S2469G variant (also known as c.7405A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 7405. The serine at codon 2469 is replaced by glycine, an amino acid with 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. |
Fulgent Genetics, |
RCV000473231 | SCV002806732 | uncertain significance | Alstrom syndrome | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003231486 | SCV003930210 | uncertain significance | not provided | 2023-05-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV000473231 | SCV002082870 | uncertain significance | Alstrom syndrome | 2021-01-19 | no assertion criteria provided | clinical testing |