ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.1752A>G (p.Gln584=)

gnomAD frequency: 0.00050  dbSNP: rs139237825
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315332 SCV000849111 likely benign Inborn genetic diseases 2017-02-23 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.
GeneDx RCV001698772 SCV001916524 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253590 SCV002524721 benign ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-12-05 criteria provided, single submitter clinical testing
Invitae RCV001698772 SCV003251442 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965486 SCV004778444 likely benign ADNP-related disorder 2023-04-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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