ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.185+1G>C

dbSNP: rs1559679965
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698473 SCV000827139 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2022-02-24 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with clinical features of ARL6-related disease (Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 576069). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 4 of the ARL6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ARL6 are known to be pathogenic (PMID: 15258860, 19858128, 20142850, 22334370, 27486776, 31736247).

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