ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)

gnomAD frequency: 0.00015  dbSNP: rs201284965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262504 SCV001440410 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001262504 SCV001729347 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393675 SCV002703447 benign Inborn genetic diseases 2019-05-23 criteria provided, single submitter clinical testing This alteration is classified as 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.

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