Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV001288722 | SCV001476034 | likely benign | not provided | 2020-01-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002541793 | SCV003726670 | uncertain significance | Inborn genetic diseases | 2022-09-14 | criteria provided, single submitter | clinical testing | The c.1738C>T (p.R580W) alteration is located in exon 16 (coding exon 16) of the PRKCG gene. This alteration results from a C to T substitution at nucleotide position 1738, causing the arginine (R) at amino acid position 580 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004699272 | SCV005202559 | uncertain significance | not specified | 2024-07-12 | criteria provided, single submitter | clinical testing | Variant summary: PRKCG c.1738C>T (p.Arg580Trp) results in a non-conservative amino acid change located in the Protein kinase domain (IPR000719) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7.6e-05 in 250754 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in PRKCG causing Spinocerebellar Ataxia 14, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1738C>T 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: 994942). Based on the evidence outlined above, the variant was classified as uncertain significance. |