ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys)

dbSNP: rs531230573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253187 SCV002523443 likely benign See cases 2020-01-03 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP1, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003094135 SCV003472619 uncertain significance not provided 2024-07-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 990 of the ADNP protein (p.Glu990Lys). This variant is present in population databases (rs531230573, gnomAD 0.04%). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 30564305). ClinVar contains an entry for this variant (Variation ID: 1690769). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005032200 SCV005661460 uncertain significance ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2024-06-12 criteria provided, single submitter clinical testing

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