ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)

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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 RCV002629852 SCV003523534 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV003229937 SCV003927772 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004676169 SCV005177694 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.3122A>T (p.D1041V) alteration is located in exon 9 (coding exon 9) of the ATRX gene. This alteration results from a A to T substitution at nucleotide position 3122, causing the aspartic acid (D) at amino acid position 1041 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005050763 SCV005678851 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2024-01-09 criteria provided, single submitter clinical testing

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