ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)

dbSNP: rs886056775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269400 SCV000434344 uncertain significance ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing The c.1102C>T (p.Gln368Ter) variant is a stop-gained variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Helsmoortel-Van der Aa syndrome.
GeneDx RCV003229829 SCV003927726 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 735 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32758449, 29724491, 33004838, 25363760, 25057125, 24531329, 25217958, 31685013, 30107084, 25169753, 28221363, 31526516, 31029150)
GenomeConnect - Simons Searchlight RCV000269400 SCV001443555 likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2019-02-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-02-04 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-01-06 by GTR ID of laboratory name 504895. The reporting laboratory might also submit to ClinVar.

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