ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.166+1G>A

gnomAD frequency: 0.00016  dbSNP: rs765874488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002281851 SCV002572369 uncertain significance not specified 2022-08-26 criteria provided, single submitter clinical testing Variant summary: FGD4 c.-102624G>A is located in the untranscribed region upstream of the FGD4 gene region in transcript NM_139241.3, however it might affect a splice site in other transcripts (c.166+1G>A, in NM_001370298.3). The variant allele was found at a frequency of 0.00016 in 150938 control chromosomes (gnomAD v3.1.2). To our knowledge, no occurrence of c.-102624G>A in individuals affected with Charcot-Marie Disease Type 4H and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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