ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) (rs1060501431)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463877 SCV000546170 uncertain significance Jeune thoracic dystrophy 2017-02-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 2819 of the DYNC2H1 protein (p.Ile2819Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with asphyxiating thoracic dystrophy (ATD) (PMID: 23339108, 23456818) and has been shown to segregate with ATD in a single family (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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