ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6943G>A (p.Ala2315Thr)

dbSNP: rs2063256154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346258 SCV001540442 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2022-02-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATRX-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2315 of the ATRX protein (p.Ala2315Thr). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1042324). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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.

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