ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs146367309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000937814 SCV001083607 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288724 SCV001476036 benign not specified 2020-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544532 SCV003708062 uncertain significance Inborn genetic diseases 2024-11-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001288724 SCV005381128 likely benign not specified 2024-08-14 criteria provided, single submitter clinical testing Variant summary: PRKCG c.1871G>A (p.Arg624Gln) results in a conservative amino acid change located in the AGC-kinase, C-terminal domain (IPR000961) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 218094 control chromosomes, predominantly at a frequency of 0.0012 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in PRKCG causing Spinocerebellar Ataxia 14 phenotype. To our knowledge, no occurrence of c.1871G>A in individuals affected with Spinocerebellar Ataxia 14 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 759927). Based on the evidence outlined above, the variant was classified as likely benign.

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