ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.1918G>T (p.Gly640Cys)

dbSNP: rs1332498109
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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 RCV002859447 SCV003623064 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.1918G>T (p.G640C) alteration is located in exon 18 (coding exon 18) of the PRKCG gene. This alteration results from a G to T substitution at nucleotide position 1918, causing the glycine (G) at amino acid position 640 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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