ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) (rs369614706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000516108 SCV000612105 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
Invitae RCV000516108 SCV000951059 uncertain significance Jeune thoracic dystrophy 2018-09-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 384 of the DYNC2H1 protein (p.Ala384Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs369614706, ExAC 0.02%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with short-rib polydactyly syndrome type III (PMID: 25982780). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 25982780). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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