ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) (rs782781078)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000180512 SCV000281033 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180512 SCV000232969 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Invitae RCV000640830 SCV000762431 uncertain significance ATR-X syndrome 2017-09-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1031 of the ATRX protein (p.Gly1031Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ATRX-related disease. ClinVar contains an entry for this variant (Variation ID: 199029). 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 serine 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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