ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.1626G>A (p.Pro542=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804236 SCV000944133 uncertain significance not provided 2018-07-26 criteria provided, single submitter clinical testing This sequence change affects codon 542 of the SZT2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SZT2 protein. This variant also falls at the last nucleotide of exon 11 of the SZT2 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs757610969, ExAC 0.01%). This variant has not been reported in the literature in individuals with SZT2-related disease. 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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