ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11493G>A (p.Glu3831=) (rs778529441)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458701 SCV000546172 uncertain significance Jeune thoracic dystrophy 2016-08-19 criteria provided, single submitter clinical testing This sequence change affects codon 3838 of the DYNC2H1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DYNC2H1 protein. It also falls at the last nucleotide of exon 79 of the DYNC2H1 coding sequence. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DYNC2H1-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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