ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002863001 SCV003225054 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2022-08-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser54*) in the ATRX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATRX are known to be pathogenic (PMID: 15591283, 18409179, 23681356). This variant has not been reported in the literature in individuals affected with ATRX-related conditions. For these reasons, this variant has been classified as Pathogenic.

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