ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) (rs118203974)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248027 SCV001421486 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg275*) in the FGD4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs118203974, ExAC 0.006%). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 19221294). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1016). Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001071 SCV000021221 pathogenic Charcot-Marie-Tooth disease, type 4H 2009-02-17 no assertion criteria provided literature only
GeneReviews RCV000001071 SCV000054708 pathologic Charcot-Marie-Tooth disease, type 4H 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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