ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002378187 SCV002668018 likely benign Inborn genetic diseases 2019-06-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003108052 SCV003781784 likely benign not provided 2024-04-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548280 SCV004116321 uncertain significance CHD8-related disorder 2022-11-23 criteria provided, single submitter clinical testing The CHD8 c.1234G>A variant is predicted to result in the amino acid substitution p.Ala412Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-21896395-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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