ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.188-1G>A

dbSNP: rs2140142183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377548 SCV001574907 likely pathogenic Leber congenital amaurosis 13 2020-09-10 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 31054281). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RDH12 are known to be pathogenic (PMID: 17964524, 22065924). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 4 of the RDH12 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Natera, Inc. RCV001831344 SCV002091256 likely pathogenic Leber congenital amaurosis 2017-06-19 no assertion criteria provided clinical testing

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