ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.535C>T (p.Pro179Ser)

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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 RCV005397620 SCV006049438 uncertain significance Inborn genetic diseases 2025-02-13 criteria provided, single submitter clinical testing The c.535C>T (p.P179S) alteration is located in exon 3 (coding exon 3) of the PCNT gene. This alteration results from a C to T substitution at nucleotide position 535, causing the proline (P) at amino acid position 179 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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