ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.826G>C (p.Glu276Gln)

dbSNP: rs751900290
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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 RCV001888603 SCV002142665 uncertain significance PRPH2-related disorder 2021-06-08 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Experimental studies have shown that this variant affects PRPH2 protein function (PMID: 17591862). This variant has not been reported in the literature in individuals with PRPH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 276 of the PRPH2 protein (p.Glu276Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine.

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