ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)

gnomAD frequency: 0.00001  dbSNP: rs752242512
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036749 SCV001200127 pathogenic Leber congenital amaurosis 13 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg106*) 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). This variant is present in population databases (rs752242512, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 22065924, 29178642). ClinVar contains an entry for this variant (Variation ID: 835782). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001091053 SCV001246890 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
DASA RCV001036749 SCV002061171 pathogenic Leber congenital amaurosis 13 2022-01-05 criteria provided, single submitter clinical testing The c.316C>T;p.(Arg106*) variant creates a premature translational stop signal in the RDH12 gene. It is expected to result in an absent or disrupted protein product -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 835782; PMID: 22065924; 29178642) - PS4. The variant is present at low allele frequencies population databases (rs752242512 – gnomAD 0.001314%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.
Baylor Genetics RCV001036749 SCV004208604 pathogenic Leber congenital amaurosis 13 2023-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827217 SCV002091265 pathogenic Leber congenital amaurosis 2017-06-19 no assertion criteria provided clinical testing

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