ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.519C>T (p.Asp173=)

gnomAD frequency: 0.00047  dbSNP: rs144284975
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127475 SCV000171048 benign not specified 2013-11-27 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.
Eurofins Ntd Llc (ga) RCV000726220 SCV000342977 uncertain significance not provided 2016-07-07 criteria provided, single submitter clinical testing
Invitae RCV001080581 SCV000560512 likely benign Developmental and epileptic encephalopathy, 12 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312583 SCV000845901 likely benign Inborn genetic diseases 2016-05-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina RCV001129245 SCV001288753 uncertain significance Microcephaly, seizures, and developmental delay 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000726220 SCV004140479 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PNKP: BP4, BP7

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