ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)

gnomAD frequency: 0.00004  dbSNP: rs782781078
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180512 SCV000232969 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000180512 SCV000281033 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000640830 SCV000762431 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517765 SCV003549558 uncertain significance Inborn genetic diseases 2021-02-24 criteria provided, single submitter clinical testing The c.3091G>A (p.G1031S) 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 3091, causing the glycine (G) at amino acid position 1031 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000640830 SCV001462654 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-16 no assertion criteria provided clinical testing

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