ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3611C>T (p.Pro1204Leu)

gnomAD frequency: 0.00004  dbSNP: rs749542536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903543 SCV002170127 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1204 of the PCNT protein (p.Pro1204Leu). This variant is present in population databases (rs749542536, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1405063). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002555389 SCV003681452 uncertain significance Inborn genetic diseases 2022-08-31 criteria provided, single submitter clinical testing The c.3611C>T (p.P1204L) alteration is located in exon 19 (coding exon 19) of the PCNT gene. This alteration results from a C to T substitution at nucleotide position 3611, causing the proline (P) at amino acid position 1204 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 RCV004741136 SCV005350035 uncertain significance PCNT-related disorder 2024-03-28 no assertion criteria provided clinical testing The PCNT c.3611C>T variant is predicted to result in the amino acid substitution p.Pro1204Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African 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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