ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.1654C>G (p.Gln552Glu)

dbSNP: rs2068777413
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002898175 SCV003662925 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.1654C>G (p.Q552E) alteration is located in exon 15 (coding exon 15) of the PRKCG gene. This alteration results from a C to G substitution at nucleotide position 1654, causing the glutamine (Q) at amino acid position 552 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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