Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479594 | SCV000573210 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | 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 |
Invitae | RCV001085744 | SCV000756167 | likely benign | Alstrom syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383930 | SCV002691260 | uncertain significance | Cardiovascular phenotype | 2021-02-22 | criteria provided, single submitter | clinical testing | The p.D3295H variant (also known as c.9883G>C), located in coding exon 12 of the ALMS1 gene, results from a G to C substitution at nucleotide position 9883. The aspartic acid at codon 3295 is replaced by histidine, 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. |
Natera, |
RCV001085744 | SCV001459594 | uncertain significance | Alstrom syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |