ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.210dup (p.Arg71fs)

gnomAD frequency: 0.00001  dbSNP: rs797044761
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000330650 SCV000331697 pathogenic not provided 2014-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001067765 SCV001232844 pathogenic Leber congenital amaurosis 13 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg71Glnfs*12) 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 (rs551914133, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 30902645). ClinVar contains an entry for this variant (Variation ID: 197878). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073904 SCV001239469 likely pathogenic Retinal dystrophy 2018-05-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001067765 SCV004208597 pathogenic Leber congenital amaurosis 13 2024-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826911 SCV002091257 pathogenic Leber congenital amaurosis 2021-03-25 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001067765 SCV004228926 not provided Leber congenital amaurosis 13 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 02-25-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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