ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) (rs143621153)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000721035 SCV000851919 likely benign History of neurodevelopmental disorder 2016-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764880 SCV000896036 uncertain significance Acquired hemoglobin H disease; ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000535770 SCV000639881 uncertain significance ATR-X syndrome 2017-07-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1071 of the ATRX protein (p.Gly1071Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs143621153, ExAC 0.002%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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