ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1075C>G (p.Leu359Val)

dbSNP: rs2071423786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208876 SCV001380285 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 359 of the ATRX protein (p.Leu359Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.
Natera, Inc. RCV001208876 SCV002089010 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-05-06 no assertion criteria provided clinical testing

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