ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.501G>A (p.Val167=)

gnomAD frequency: 0.00071  dbSNP: rs142143566
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724879 SCV000231103 uncertain significance not provided 2016-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000188410 SCV000242022 benign not specified 2014-12-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001088127 SCV000770271 benign Developmental and epileptic encephalopathy, 12 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314651 SCV000848061 likely benign Inborn genetic diseases 2016-10-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003947523 SCV004765834 likely benign PNKP-related condition 2022-09-28 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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