ClinVar Miner

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

dbSNP: rs764770160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223602 SCV001395758 pathogenic Charcot-Marie-Tooth disease type 4 2019-04-26 criteria provided, single submitter clinical testing 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. 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. 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 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.
GeneDx RCV001587250 SCV001814390 likely pathogenic not provided 2019-12-02 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31980526, 24088667)
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447320 SCV004174469 uncertain significance Yunis-Varon syndrome 2016-01-06 no assertion criteria provided literature only

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