ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.991del (p.Gln331fs)

dbSNP: rs2152003795
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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 RCV001361997 SCV001557992 pathogenic PRPH2-related disorder 2022-10-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1053626). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the PRPH2 gene (p.Gln331Argfs*30). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the PRPH2 protein and extend the protein by 13 additional amino acid residues. 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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