ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)

dbSNP: rs1799984208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044856 SCV001208676 uncertain significance PRPH2-related disorder 2020-02-18 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 pattern dystrophy (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the PRPH2 gene (p.Ala339Argfs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acids of the PRPH2 protein and extend the protein by an additional 45 amino acids.
Blueprint Genetics RCV001075201 SCV001240815 uncertain significance Retinal dystrophy 2018-11-14 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530396 SCV001745209 likely pathogenic not provided 2021-05-27 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Global Variome, with Curator vacancy.

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