ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)

dbSNP: rs1554268521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585391 SCV000693211 likely pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000585391 SCV001447929 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867900 SCV002254557 pathogenic PRPH2-related disorder 2024-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp316*) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 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 individual(s) with adult vitelliform macular dystrophy (PMID: 9338584). ClinVar contains an entry for this variant (Variation ID: 493432). This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Val332Glu) have been determined to be pathogenic (PMID: 30718709, 32531846). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000585391 SCV001745201 likely pathogenic not provided 2020-05-28 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: IMGAG.

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