ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)

gnomAD frequency: 0.00080  dbSNP: rs146521598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152816 SCV000202212 uncertain significance not provided 2014-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079208 SCV001019571 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516068 SCV003691634 uncertain significance Inborn genetic diseases 2022-09-29 criteria provided, single submitter clinical testing The c.3281G>A (p.C1094Y) alteration is located in exon 9 (coding exon 9) of the ATRX gene. This alteration results from a G to A substitution at nucleotide position 3281, causing the cysteine (C) at amino acid position 1094 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001079208 SCV002087308 benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-10-28 no assertion criteria provided clinical testing

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