ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7141G>A (p.Ala2381Thr)

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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 RCV005391238 SCV006049406 uncertain significance Inborn genetic diseases 2025-02-24 criteria provided, single submitter clinical testing The c.7141G>A (p.A2381T) alteration is located in exon 32 (coding exon 32) of the PCNT gene. This alteration results from a G to A substitution at nucleotide position 7141, causing the alanine (A) at amino acid position 2381 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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