ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.303dup (p.Ile102fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002985505 SCV003292483 pathogenic not provided 2022-01-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GFM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile102Tyrfs*16) in the GFM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GFM1 are known to be pathogenic (PMID: 16632485, 17160893).
Baylor Genetics RCV004572498 SCV005058973 likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2024-01-03 criteria provided, single submitter clinical testing

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