ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.1747G>T (p.Ala583Ser)

gnomAD frequency: 0.00008  dbSNP: rs141535413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558949 SCV001780995 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001558949 SCV003486250 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 583 of the ADNP protein (p.Ala583Ser). This variant is present in population databases (rs141535413, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ADNP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1195748). 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 disruptive. 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.

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