ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.236C>T (p.Pro79Leu)

gnomAD frequency: 0.00009  dbSNP: rs745598788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820401 SCV002071234 uncertain significance not specified 2019-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542619 SCV003033203 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040985 SCV005002861 uncertain significance Inborn genetic diseases 2023-11-02 criteria provided, single submitter clinical testing The c.236C>T (p.P79L) alteration is located in exon 2 (coding exon 2) of the PCNT gene. This alteration results from a C to T substitution at nucleotide position 236, causing the proline (P) at amino acid position 79 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004741092 SCV005347206 uncertain significance PCNT-related disorder 2024-08-14 no assertion criteria provided clinical testing The PCNT c.236C>T variant is predicted to result in the amino acid substitution p.Pro79Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.065% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, 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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