ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu)

gnomAD frequency: 0.00052  dbSNP: rs201409874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001992526 SCV002222922 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2524 of the PCLO protein (p.Gln2524Leu). This variant is present in population databases (rs201409874, gnomAD 0.2%). 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: 1445134). 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.
Fulgent Genetics, Fulgent Genetics RCV002492073 SCV002776266 uncertain significance Pontocerebellar hypoplasia type 3 2022-03-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941220 SCV004765507 likely benign PCLO-related disorder 2022-08-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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