ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)

gnomAD frequency: 0.00001  dbSNP: rs782554626
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692042 SCV000819849 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144514 SCV003834516 uncertain significance not provided 2022-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965674 SCV005536110 uncertain significance Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing The c.3538A>G (p.I1180V) 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 3538, causing the isoleucine (I) at amino acid position 1180 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000692042 SCV002087298 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2019-10-28 no assertion criteria provided clinical testing

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