ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)

dbSNP: rs1582764519
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074502 SCV001240089 likely pathogenic Retinal dystrophy 2017-10-30 criteria provided, single submitter clinical testing
Invitae RCV001230191 SCV001402664 likely pathogenic PRPH2-related disorder 2023-06-16 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 812384). This variant has been observed in individuals with autosomal dominant inherited retinal dystrophy (PMID: 18310263; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.811_813del, results in the deletion of 1 amino acid(s) of the PRPH2 protein (p.Leu271del), but otherwise preserves the integrity of the reading frame.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250342 SCV001424662 uncertain significance Vitelliform macular dystrophy 2 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.811_813delCTC in the PRPH2 gene has been previously studied(PMID 18310263). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PM4] and classified NM_000322.4:c.811_813delCTC in the PRPH2 gene as a Variant of Uncertain Significance.
Dept Of Ophthalmology, Nagoya University RCV001074502 SCV004707326 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003137 SCV001161206 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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