ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)

dbSNP: rs104894474
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002132 SCV000935367 pathogenic Leber congenital amaurosis 13 2019-03-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individuals affected with retinal dystrophies (PMID: 15322982, 17389517, 26355662). ClinVar contains an entry for this variant (Variation ID: 2051). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly127*) in the RDH12 gene. It is expected to result in an absent or disrupted protein product.
CeGaT Center for Human Genetics Tuebingen RCV001091054 SCV001246891 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
OMIM RCV000002132 SCV000022290 pathogenic Leber congenital amaurosis 13 2004-10-01 no assertion criteria provided literature only
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787672 SCV000926662 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000002132 SCV001432272 pathogenic Leber congenital amaurosis 13 no assertion criteria provided research
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV000002132 SCV003922079 pathogenic Leber congenital amaurosis 13 2023-03-01 no assertion criteria provided clinical testing This variant has not been reported in the literature in individuals affected with RDH12-related conditions and Iranom. The 14 years old boy whit vision problem has been detected homozygous c.379G>T mutation on his RDH12 genes and the parents are first cousin. The RDH12 gene is associated whit autosomal recessive Leber congenital amaurosis 13/retinitis pigmentosa therefore he is affected to this disease. Therefore, it has been classified as a Variant of Pathogenic.

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