ClinVar Miner

Submissions for variant NM_022369.4(STRA6):c.1419-9C>A

dbSNP: rs1249326220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203399 SCV001374562 uncertain significance Matthew-Wood syndrome 2019-09-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 15 of the STRA6 gene. It does not directly change the encoded amino acid sequence of the STRA6 protein. This variant has not been reported in the literature in individuals with STRA6-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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