ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg)

gnomAD frequency: 0.00001  dbSNP: rs1057524797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435144 SCV000536485 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004529579 SCV004109592 uncertain significance ATRX-related disorder 2023-05-26 criteria provided, single submitter clinical testing The ATRX c.3655G>A variant is predicted to result in the amino acid substitution p.Gly1219Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004965461 SCV005536103 uncertain significance Inborn genetic diseases 2024-11-15 criteria provided, single submitter clinical testing The c.3655G>A (p.G1219R) 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 3655, causing the glycine (G) at amino acid position 1219 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828456 SCV002087294 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-08-02 no assertion criteria provided clinical testing

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