ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.448+1G>C

dbSNP: rs781331005
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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 RCV001043928 SCV001207697 pathogenic Leber congenital amaurosis 13 2022-11-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs781331005, gnomAD 0.002%). This sequence change affects a donor splice site in intron 6 of the RDH12 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 RDH12 are known to be pathogenic (PMID: 17964524, 22065924, 32014858, 34001834). Disruption of this splice site has been observed in individual(s) with autosomal recessive RDH12-related conditions (PMID: 22065924, 32790509). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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: 841661).
Baylor Genetics RCV001043928 SCV004208582 pathogenic Leber congenital amaurosis 13 2024-02-22 criteria provided, single submitter clinical testing

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