ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs)

dbSNP: rs1981021559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003393920 SCV004120759 pathogenic ADNP-related disorder 2022-12-08 criteria provided, single submitter clinical testing The ADNP c.1239_1240delTC variant is predicted to result in a frameshift and premature protein termination (p.Gln414Valfs*25). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in ADNP are expected to be pathogenic. This variant is interpreted as pathogenic.
Diagnostic Laboratory, Strasbourg University Hospital RCV001249499 SCV001423489 pathogenic Intellectual disability 2016-12-01 no assertion criteria provided clinical testing

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