Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330111 | SCV001521716 | pathogenic | Bardet-Biedl syndrome 3 | 2019-09-13 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001859272 | SCV002108605 | pathogenic | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2023-07-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr76*) in the ARL6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARL6 are known to be pathogenic (PMID: 15258860, 19858128, 20142850, 22334370, 27486776, 31736247). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARL6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028925). For these reasons, this variant has been classified as Pathogenic. |
Preventiongenetics, |
RCV003416217 | SCV004118086 | likely pathogenic | ARL6-related condition | 2023-03-10 | criteria provided, single submitter | clinical testing | The ARL6 c.228C>G variant is predicted to result in premature protein termination (p.Tyr76*). To our knowledge, this variant has not been reported in the liturature or in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Nonsense variants in ARL6 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |