ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)

dbSNP: rs2071236443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047336 SCV001211286 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1067 of the ATRX protein (p.Ser1067Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATRX-related conditions. 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003396655 SCV004103003 uncertain significance ATRX-related condition 2023-09-19 criteria provided, single submitter clinical testing The ATRX c.3200C>T variant is predicted to result in the amino acid substitution p.Ser1067Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001047336 SCV002087310 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-02-21 no assertion criteria provided clinical testing

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