ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6326+3A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004678156 SCV005177673 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.6326+3A>G intronic alteration results from an A to G substitution 3 nucleotides after coding exon 28 of the ATRX gene. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005051463 SCV005678849 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2024-04-04 criteria provided, single submitter clinical testing

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