Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060805 | SCV001225517 | uncertain significance | Alstrom syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 187 of the ALMS1 protein (p.Asp187His). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 855523). 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. |
Ambry Genetics | RCV002348442 | SCV002647462 | uncertain significance | Cardiovascular phenotype | 2022-06-24 | criteria provided, single submitter | clinical testing | The p.D187H variant (also known as c.559G>C), located in coding exon 3 of the ALMS1 gene, results from a G to C substitution at nucleotide position 559. The aspartic acid at codon 187 is replaced by histidine, an amino acid with similar properties. This amino acid position is 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. |