ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5133A>T (p.Pro1711=)

dbSNP: rs2148335082
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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 RCV001991911 SCV002277594 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-08-13 criteria provided, single submitter clinical testing This sequence change affects codon 1711 of the ATRX mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATRX protein. It affects a nucleotide within the consensus splice site of the intron. 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 sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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