ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del)

dbSNP: rs761350619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266890 SCV002549029 uncertain significance ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-07-02 criteria provided, single submitter clinical testing The inherited in-frame deletion variant c.3045_3047del, p.Lys1016del has not been reported in individuals with ADNP-relatedd isorders. This variant is absent in the gnomAD v3.1.1 database, suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms predict a conflicting interpretation of pathogenicity. Given the lack of compelling evidence for its pathogenicity, the inherited c.3045_3047del,p.Lys1016del variant identified in the ADNP gene is reported as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003728058 SCV004520131 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing

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