Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415931 | SCV000493279 | likely pathogenic | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000668033 | SCV000792576 | likely pathogenic | Alstrom syndrome | 2017-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668033 | SCV000931494 | pathogenic | Alstrom syndrome | 2019-02-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg579Glyfs*17) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777476179, ExAC 0.001%). This variant has been observed in an individual affected with Alstrom syndrome (PMID: 24462884). ClinVar contains an entry for this variant (Variation ID: 374506). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic. |
NIHR Bioresource Rare Diseases, |
RCV001003950 | SCV001161940 | likely pathogenic | Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease | no assertion criteria provided | research |