ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)

gnomAD frequency: 0.00003  dbSNP: rs782757975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533069 SCV000639875 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438372 SCV002745350 uncertain significance Inborn genetic diseases 2019-10-28 criteria provided, single submitter clinical testing The p.T899M variant (also known as c.2696C>T), located in coding exon 9 of the ATRX gene, results from a C to T substitution at nucleotide position 2696. The threonine at codon 899 is replaced by methionine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000533069 SCV002087325 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2019-10-28 no assertion criteria provided clinical testing

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