ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.1871G>A (p.Arg624Gln)

gnomAD frequency: 0.00007  dbSNP: rs146367309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000937814 SCV001083607 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288724 SCV001476036 benign not specified 2020-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544532 SCV003708062 uncertain significance Inborn genetic diseases 2022-10-06 criteria provided, single submitter clinical testing The c.1871G>A (p.R624Q) alteration is located in exon 17 (coding exon 17) of the PRKCG gene. This alteration results from a G to A substitution at nucleotide position 1871, causing the arginine (R) at amino acid position 624 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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