ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7270C>T (p.Arg2424Trp)

gnomAD frequency: 0.00003  dbSNP: rs752369549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005382633 SCV006049404 uncertain significance Inborn genetic diseases 2025-02-13 criteria provided, single submitter clinical testing The c.7270C>T (p.R2424W) alteration is located in exon 33 (coding exon 33) of the PCNT gene. This alteration results from a C to T substitution at nucleotide position 7270, causing the arginine (R) at amino acid position 2424 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003416981 SCV004109042 uncertain significance PCNT-related disorder 2024-06-17 no assertion criteria provided clinical testing The PCNT c.7270C>T variant is predicted to result in the amino acid substitution p.Arg2424Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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