ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)

gnomAD frequency: 0.00014  dbSNP: rs372356069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178007 SCV000229976 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
Invitae RCV000178007 SCV002257649 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2983 of the PCNT protein (p.Leu2983Phe). This variant is present in population databases (rs372356069, gnomAD 0.07%). 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: 197082). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252022 SCV002523685 likely benign See cases 2020-04-24 criteria provided, single submitter clinical testing ACMG classification criteria: BP1, BP4

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