ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)

gnomAD frequency: 0.00003  dbSNP: rs1064796745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484537 SCV000573784 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001834575 SCV003455427 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526967 SCV003540464 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.3224A>G (p.D1075G) alteration is located in exon 9 (coding exon 9) of the ATRX gene. This alteration results from a A to G substitution at nucleotide position 3224, causing the aspartic acid (D) at amino acid position 1075 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001834575 SCV002087309 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-07-30 no assertion criteria provided clinical testing

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