ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)

dbSNP: rs104894470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002129 SCV003442311 pathogenic Leber congenital amaurosis 13 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2048). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 15258582). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln189*) in the RDH12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RDH12 are known to be pathogenic (PMID: 17964524, 22065924, 32014858, 34001834).
OMIM RCV000002129 SCV000022287 pathogenic Leber congenital amaurosis 13 2004-08-01 no assertion criteria provided literature only

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