Submissions for variant NM_000489.6(ATRX):c.278A>T (p.Asp93Val)

gnomAD frequency: 0.00001  dbSNP: rs1064796774

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479685	SCV000573834	uncertain significance	not provided	2017-03-09	criteria provided, single submitter	clinical testing	The D93V variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D93V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D93V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D93V as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001247873	SCV001421324	likely benign	Alpha thalassemia-X-linked intellectual disability syndrome	2023-09-21	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001247873	SCV002089021	uncertain significance	Alpha thalassemia-X-linked intellectual disability syndrome	2020-10-21	no assertion criteria provided	clinical testing