ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3880G>C (p.Asp1294His)

gnomAD frequency: 0.00010  dbSNP: rs782386546
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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 RCV000540998 SCV000639887 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001566773 SCV001790342 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159818 SCV003880940 likely benign Inborn genetic diseases 2023-02-06 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 RCV004735601 SCV005342991 likely benign ATRX-related disorder 2024-08-09 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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