ClinVar Miner

Submissions for variant NM_032753.4(RAX2):c.344C>A (p.Ser115Ter) (rs398124431)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082311 SCV000114262 pathogenic not provided 2013-09-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075037 SCV001240648 likely pathogenic Retinal dystrophy 2018-05-06 criteria provided, single submitter clinical testing
Invitae RCV000082311 SCV001560419 uncertain significance not provided 2020-08-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RAX2 gene (p.Ser115*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 70 amino acids of the RAX2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with RAX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 96232). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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