Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038492 | SCV001201962 | uncertain significance | Alstrom syndrome | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1351 of the ALMS1 protein (p.His1351Arg). This variant is present in population databases (rs373366352, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 837210). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001559084 | SCV001781156 | uncertain significance | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing | 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 |
Ambry Genetics | RCV002320242 | SCV002631913 | uncertain significance | Cardiovascular phenotype | 2021-09-22 | criteria provided, single submitter | clinical testing | The p.H1351R variant (also known as c.4052A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 4052. The histidine at codon 1351 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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, |
RCV001038492 | SCV001453452 | likely benign | Alstrom syndrome | 2020-05-02 | no assertion criteria provided | clinical testing |