ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.948del (p.Thr315_Trp316insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002791225 SCV003199448 pathogenic PRPH2-related disorder 2022-05-15 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 autosomal dominant adult vitelliform macular dystrophy (PMID: 9338584). 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; Invitae). 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.

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