ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5152-3A>C (rs372549709)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464983 SCV000546173 uncertain significance Jeune thoracic dystrophy 2016-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 33 of the DYNC2H1 gene. It does not directly change the encoded amino acid sequence of the DYNC2H1 protein. This variant is present in population databases (rs372549709, ExAC .03% ) but has not been reported in the literature in individuals with a DYNC2H1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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