ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) (rs180861816)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195758 SCV000254666 uncertain significance Jeune thoracic dystrophy 2015-01-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 592 of the DYNC2H1 protein (p.Leu592Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant has not been published in the literature and is present in population databases (rs180861816, 0.2%). 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: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this is a rare missense change with uncertain impact on protein function. Although there is no indication that this variant causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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