ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)

dbSNP: rs751035912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520422 SCV000620124 pathogenic not provided 2022-10-31 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV000520422 SCV001880729 likely pathogenic not provided 2021-01-06 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV003581683 SCV004273563 pathogenic Charcot-Marie-Tooth disease type 4 2024-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly631Glufs*5) in the FGD4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). This variant is present in population databases (rs751035912, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FGD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 451425). For these reasons, this variant has been classified as Pathogenic.

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