Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664500 | SCV000788470 | uncertain significance | Alstrom syndrome | 2017-01-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664500 | SCV001415141 | uncertain significance | Alstrom syndrome | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3966 of the ALMS1 protein (p.Val3966Leu). This variant is present in population databases (rs199683521, 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: 549920). 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 | RCV002334231 | SCV002640891 | uncertain significance | Cardiovascular phenotype | 2022-11-22 | criteria provided, single submitter | clinical testing | The p.V3966L variant (also known as c.11896G>T), located in coding exon 19 of the ALMS1 gene, results from a G to T substitution at nucleotide position 11896. The valine at codon 3966 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330875 | SCV004039453 | uncertain significance | not specified | 2023-08-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000664500 | SCV002079042 | uncertain significance | Alstrom syndrome | 2021-04-19 | no assertion criteria provided | clinical testing |