ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.994del (p.Val332fs)

dbSNP: rs2152003792
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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 RCV001882254 SCV002166371 pathogenic PRPH2-related disorder 2023-03-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1392728). This frameshift has been observed in individual(s) with retinal dystrophy (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the PRPH2 gene (p.Val332Trpfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the PRPH2 protein and extend the protein by 13 additional amino acid residues.

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