Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074590 | SCV001240181 | likely pathogenic | Retinal dystrophy | 2019-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387842 | SCV001588562 | pathogenic | Alstrom syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln3646*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Alstrom syndrome (PMID: 32944671). ClinVar contains an entry for this variant (Variation ID: 866528). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV001387842 | SCV002517555 | pathogenic | Alstrom syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing |