ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)

dbSNP: rs1981147033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719122 SCV005326217 pathogenic not provided 2024-03-05 criteria provided, single submitter clinical testing Identified in an individual with developmental delay, autism, and early dentition in the published literature (PMID: 28221363, 29724491); Nonsense variant predicted to result in protein truncation, as the last 941 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: 28221363, 29724491)
GenomeConnect - Simons Searchlight RCV001265358 SCV001443478 pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2016-09-15 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-09-15 and interpreted as Pathogenic. Variant was initially reported on 2015-10-06 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.

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