ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr)

gnomAD frequency: 0.00008  dbSNP: rs147299402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499393 SCV000593051 likely benign not specified 2018-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764249 SCV000895254 uncertain significance ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001545023 SCV001764269 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001545023 SCV003502056 uncertain significance not provided 2023-02-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ADNP-related conditions. This variant is present in population databases (rs147299402, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 873 of the ADNP protein (p.Asp873Tyr). ClinVar contains an entry for this variant (Variation ID: 434095). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated.

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