ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr)

dbSNP: rs367807679
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217519 SCV001389362 uncertain significance Jeune thoracic dystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1829 of the DYNC2H1 protein (p.Ile1829Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs367807679, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. 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. 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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