ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.685AAC[1] (p.Asn230del)

dbSNP: rs2152005289
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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 RCV001895071 SCV002156185 uncertain significance PRPH2-related disorder 2022-10-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with retinal dystrophy (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.688_690del, results in the deletion of 1 amino acid(s) of the PRPH2 protein (p.Asn230del), but otherwise preserves the integrity of the reading frame.

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