ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.1666G>A (p.Asp556Asn)

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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 RCV004954679 SCV005477311 uncertain significance Inborn genetic diseases 2024-08-10 criteria provided, single submitter clinical testing The c.1666G>A (p.D556N) alteration is located in exon 16 (coding exon 16) of the PRKCG gene. This alteration results from a G to A substitution at nucleotide position 1666, causing the aspartic acid (D) at amino acid position 556 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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