ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.13391C>T (p.Pro4464Leu)

gnomAD frequency: 0.00012  dbSNP: rs200789291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001871421 SCV002155847 uncertain significance not provided 2022-06-27 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 4464 of the PCLO protein (p.Pro4464Leu). This variant is present in population databases (rs200789291, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with PCLO-related conditions. 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: "Deleterious"; PolyPhen-2: "Not Available"; 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.
CeGaT Center for Human Genetics Tuebingen RCV001871421 SCV004162372 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PCLO: BS1

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