ClinVar Miner

Submissions for variant NM_001366977.1(PNCK):c.229G>A (p.Glu77Lys)

gnomAD frequency: 0.00014  dbSNP: rs782100269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626119 SCV000746746 likely benign not provided 2020-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659127 SCV005148300 uncertain significance not specified 2024-05-26 criteria provided, single submitter clinical testing The c.478G>A (p.E160K) alteration is located in exon 4 (coding exon 4) of the PNCK gene. This alteration results from a G to A substitution at nucleotide position 478, causing the glutamic acid (E) at amino acid position 160 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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