ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2220C>T (p.Ser740=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002810378 SCV003197562 uncertain significance not provided 2023-09-01 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 not present in population databases (gnomAD no frequency). This sequence change affects codon 740 of the ADNP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADNP protein. ClinVar contains an entry for this variant (Variation ID: 1998322). 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.
PreventionGenetics, part of Exact Sciences RCV004725385 SCV005338127 likely benign ADNP-related disorder 2024-09-24 no assertion criteria provided 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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