ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11745G>T (p.Trp3915Cys) (rs549891589)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551839 SCV000630944 uncertain significance Jeune thoracic dystrophy 2017-08-07 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 3922 of the DYNC2H1 protein (p.Trp3922Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is present in population databases (rs549891589, ExAC 0.09%). This variant has not been reported in the literature in individuals with DYNC2H1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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