Submissions for variant NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln)

gnomAD frequency: 0.00003  dbSNP: rs367700285

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001408998	SCV001611008	likely benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-05-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002553438	SCV003713060	uncertain significance	Inborn genetic diseases	2022-11-17	criteria provided, single submitter	clinical testing	The c.3067G>C (p.E1023Q) alteration is located in exon 9 (coding exon 9) of the ATRX gene. This alteration results from a G to C substitution at nucleotide position 3067, causing the glutamic acid (E) at amino acid position 1023 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573254	SCV005877366	uncertain significance	not provided	2024-10-14	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573254	SCV001798836	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573254	SCV001972349	uncertain significance	not provided		no assertion criteria provided	clinical testing