Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000599323 | SCV000710744 | pathogenic | not provided | 2022-02-04 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Reported in ClinVar as pathogenic (ClinVar Variant ID# 3972; ClinVar); This variant is associated with the following publications: (PMID: 11941370, 17594715, 27535533) |
| Labcorp Genetics |
RCV000004178 | SCV001587016 | pathogenic | Alstrom syndrome | 2023-09-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser714Tyrfs*6) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is present in population databases (rs745574180, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 11941370). ClinVar contains an entry for this variant (Variation ID: 3972). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000004178 | SCV002572277 | pathogenic | Alstrom syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | Variant summary: ALMS1 c.2135_2136delCT/p.Ser712TyrfsX6 (also known as c.2141_2142delCT/p.Ser714fs in RefSeq) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 248708 control chromosomes. c.2135_2136delCT has been reported in the literature in individuals affected with Alstrom Syndrome. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Fulgent Genetics, |
RCV000004178 | SCV002810513 | pathogenic | Alstrom syndrome | 2021-10-12 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000004178 | SCV000024344 | pathogenic | Alstrom syndrome | 2002-05-01 | no assertion criteria provided | literature only |