ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val)

gnomAD frequency: 0.00006  dbSNP: rs150303409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499526 SCV000596316 uncertain significance not specified 2016-08-11 criteria provided, single submitter clinical testing
Invitae RCV001857144 SCV002223272 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2545 of the PCNT protein (p.Ala2545Val). This variant is present in population databases (rs150303409, 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: 436220). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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