ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)

gnomAD frequency: 0.00001  dbSNP: rs782530243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039255 SCV001202778 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-04-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002239292 SCV002511517 uncertain significance not specified 2022-04-17 criteria provided, single submitter clinical testing Variant summary: ATRX c.2348G>C (p.Ser783Thr) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.1e-05 in 182463 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2348G>C in individuals affected with ATR-X Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001039255 SCV001452622 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-16 no assertion criteria provided clinical testing

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