ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1047C>G (p.Pro349=)

gnomAD frequency: 0.00004  dbSNP: rs200288042
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864037 SCV001004782 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001566764 SCV001790331 likely benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399878 SCV002708279 likely benign Inborn genetic diseases 2014-11-24 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 RCV004538213 SCV004747813 likely benign ATRX-related disorder 2019-06-25 criteria provided, single submitter 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).
Natera, Inc. RCV000864037 SCV002089013 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-12-17 no assertion criteria provided clinical testing

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