ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.2041del (p.Gln681fs) (rs1060501904)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474290 SCV000547846 uncertain significance Charcot-Marie-Tooth disease type 4 2016-10-31 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 16 of the FGD4 mRNA (c.2041delC), causing a frameshift at codon 681. This creates a premature translational stop signal in the penultimate exon of the FGD4 mRNA (p.Gln681Argfs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acids of the FGD4 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FGD4-related disease. Experimental studies have not been reported for this truncating variant and it is currently unknown if the last 86 amino acids of the FGD4 protein are critical for its function. In summary, this frameshift variant is expected to result in a truncated FGD4 protein product. However, the functional significance of the disrupted amino acids is unknown. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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