ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.3236+1G>A

dbSNP: rs1064797371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487746 SCV000575641 likely pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253530 SCV001429282 pathogenic Ocular albinism, type II 2019-07-18 criteria provided, single submitter clinical testing This variant was identified as hemizygous
Invitae RCV000487746 SCV002238896 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 27 of the CACNA1F 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 CACNA1F are known to be pathogenic (PMID: 9662399, 11281458, 17525176, 22194652, 24124559, 26992781). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Aland Island eye disease and/or congenital stationary night blindness (PMID: 28002560, 28341476). ClinVar contains an entry for this variant (Variation ID: 425497). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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