ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.7868T>G (p.Val2623Gly)

gnomAD frequency: 0.00007  dbSNP: rs776949129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002046326 SCV002315021 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2623 of the PCLO protein (p.Val2623Gly). This variant is present in population databases (rs776949129, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PCLO-related conditions. ClinVar contains an entry for this variant (Variation ID: 1521543). 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 RCV002046326 SCV004162380 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PCLO: BP4

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