ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.157_187+178del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820774 SCV000961501 likely pathogenic Leber congenital amaurosis 13 2018-10-01 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 4 (c.156_187+177del) of the RDH12 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RDH12-related disease. Loss-of-function variants in RDH12 are known to be pathogenic (PMID: 17964524, 22065924). 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.

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