ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.920del (p.Leu307fs)

dbSNP: rs61748433
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085033 SCV001446680 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085033 SCV001961962 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513913 SCV003439333 pathogenic PRPH2-related disorder 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu307Argfs*17) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the PRPH2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with PRPH2-related conditions (PMID: 8019570, 17148040, 24265693). This variant is also known as 920delT, p.Leu307fsX83 and/or '1-bp deletion (CTG + C-G) at codon 307'. ClinVar contains an entry for this variant (Variation ID: 98720). This variant disrupts the C-terminus of the PRPH2 protein. Other variant(s) that disrupt this region (p.Trp316*) have been observed in individuals with PRPH2-related conditions (PMID: 9338584). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815040 SCV005068553 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
OMIM RCV002280811 SCV000034315 pathogenic Retinitis pigmentosa 7 1995-01-01 no assertion criteria provided literature only
Retina International RCV000085033 SCV000117169 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085033 SCV001745126 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters.

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