ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)

gnomAD frequency: 0.00020  dbSNP: rs143413618
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545834 SCV000639876 benign Alpha thalassemia-X-linked intellectual disability syndrome 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314987 SCV000847636 likely benign Inborn genetic diseases 2016-08-23 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.
GeneDx RCV001536817 SCV001753627 benign not provided 2020-11-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31856217)
Breakthrough Genomics, Breakthrough Genomics RCV001536817 SCV005210654 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001536817 SCV001929670 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001536817 SCV001972281 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541697 SCV004764946 likely benign ATRX-related disorder 2020-08-08 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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