ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.89_99del (p.Trp30fs)

dbSNP: rs763423294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953530 SCV002241882 pathogenic not provided 2021-11-10 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 present in population databases (rs763423294, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Trp30Serfs*10) 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).
Revvity Omics, Revvity RCV003146413 SCV003834574 likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2021-12-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003146413 SCV004199361 likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2022-09-01 criteria provided, single submitter clinical testing

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