ClinVar Miner

Submissions for variant NM_003743.5(NCOA1):c.2383A>G (p.Thr795Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004318155 SCV003983540 likely benign not specified 2023-03-20 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.
PreventionGenetics, part of Exact Sciences RCV004741479 SCV005364820 uncertain significance NCOA1-related disorder 2024-04-06 no assertion criteria provided clinical testing The NCOA1 c.2383A>G variant is predicted to result in the amino acid substitution p.Thr795Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0024% of alleles in individuals of European (non-Finnish) descent in gnomAD. 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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