ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr)

dbSNP: rs1567025279
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696064 SCV000824611 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2018-02-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 4389 of the DYNC1H1 protein (p.His4389Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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: "Benign"; Align-GVGD: "Class C25"). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYNC1H1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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