ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del)

dbSNP: rs796052863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188476 SCV000242090 likely pathogenic not provided 2024-10-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid(s) in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22508754, 33528536)
Labcorp Genetics (formerly Invitae), Labcorp RCV001038840 SCV001202339 uncertain significance Developmental and epileptic encephalopathy, 12 2022-04-20 criteria provided, single submitter clinical testing This variant, c.1381_1383del, results in the deletion of 1 amino acid(s) of the PNKP protein (p.Asn461del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PNKP-related conditions. ClinVar contains an entry for this variant (Variation ID: 206430). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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