ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1750+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223602 SCV001395758 pathogenic Charcot-Marie-Tooth disease type 4 2019-05-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the FIG4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual with Yunis-Varon syndrome (PMID: 24088667). In this individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). For these reasons, this variant has been classified as Pathogenic.

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