ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)

dbSNP: rs2037147164
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Total submissions: 3
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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, part of Exact Sciences 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.

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