ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.254T>A (p.Ile85Asn)

gnomAD frequency: 0.00001  dbSNP: rs1402319857
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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 RCV001963781 SCV002255191 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004970659 SCV005536050 uncertain significance Inborn genetic diseases 2024-09-09 criteria provided, single submitter clinical testing The c.254T>A (p.I85N) alteration is located in exon 5 (coding exon 5) of the ATRX gene. This alteration results from a T to A substitution at nucleotide position 254, causing the isoleucine (I) at amino acid position 85 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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