ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703881 SCV000832806 uncertain significance Ehlers-Danlos syndrome, classic type 2018-09-14 criteria provided, single submitter clinical testing This sequence change affects codon 434 of the COL5A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL5A2 protein. This variant also falls at the last nucleotide of exon 20 of the COL5A2 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs376170776, ExAC 0.006%). This variant has not been reported in the literature in individuals with COL5A2-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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