ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)

gnomAD frequency: 0.00004  dbSNP: rs782123222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513465 SCV001721083 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001595081 SCV001829582 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25257301)
Ambry Genetics RCV002564321 SCV003718216 likely benign Inborn genetic diseases 2022-01-31 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.
Natera, Inc. RCV001513465 SCV002087330 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-31 no assertion criteria provided clinical testing

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