ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042267 SCV001205942 uncertain significance CHARGE association 2019-11-29 criteria provided, single submitter clinical testing This sequence change affects codon 500 of the SEMA3E mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SEMA3E protein. This variant also falls at the last nucleotide of exon 13 of the SEMA3E coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs767115234, ExAC 0.009%). This variant has not been reported in the literature in individuals with SEMA3E-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. 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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