Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809323 | SCV000949470 | uncertain significance | Alstrom syndrome | 2022-03-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 68 of the ALMS1 protein (p.Ser68Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 653536). 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 |
RCV002249520 | SCV002520286 | uncertain significance | not provided | 2021-11-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Fulgent Genetics, |
RCV000809323 | SCV002791616 | uncertain significance | Alstrom syndrome | 2021-12-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000809323 | SCV002080373 | uncertain significance | Alstrom syndrome | 2020-03-20 | no assertion criteria provided | clinical testing |