ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.883del (p.Val295fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002287128 SCV002577206 likely pathogenic not provided 2022-09-29 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
Invitae RCV002287128 SCV003033375 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val295Phefs*2) in the GFM2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GFM2 cause disease. This variant is present in population databases (rs757683184, gnomAD 0.02%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with GFM2-related conditions.

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