ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) (rs1057517948)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785929 SCV000924508 likely pathogenic X-linked intellectual disability-hypotonic face syndrome 2018-06-15 criteria provided, single submitter research The hemizygous p.Arg2085Leu variant was identified by our study in one individual with Mental Retardation-Hypotonic Facies Syndrome. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. The Arginine (Arg) at position 2085 is highly conserved in mammals and evolutionarily distant species, supporting that a change at this position may not be tolerated. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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