ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) (rs1569536694)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692936 SCV000820787 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2018-03-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with isoleucine at codon 1335 of the ATRX protein (p.Arg1335Ile). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764879 SCV000896035 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 2018-10-31 criteria provided, single submitter clinical testing

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