Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672346 | SCV000797444 | likely pathogenic | Alstrom syndrome | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074098 | SCV001239667 | pathogenic | Retinal dystrophy | 2018-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672346 | SCV001580185 | pathogenic | Alstrom syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556350). This variant is also known as c.9894dupC. This premature translational stop signal has been observed in individual(s) with clinical features of Alstrom syndrome (PMID: 25846608, 31810438). This variant is present in population databases (rs754702823, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser3301Leufs*7) 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). |