ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2615A>T (p.Gln872Leu)

gnomAD frequency: 0.00001  dbSNP: rs782162927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703858 SCV000832782 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026645 SCV004913628 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.2615A>T (p.Q872L) alteration is located in exon 9 (coding exon 9) of the ATRX gene. This alteration results from a A to T substitution at nucleotide position 2615, causing the glutamine (Q) at amino acid position 872 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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