ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)

dbSNP: rs866604517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades RCV001002676 SCV001160693 pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384808 SCV001584458 pathogenic not provided 2020-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp433Lysfs*20) in the GFM1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GFM1 are known to be pathogenic (PMID: 16632485, 17160893). This variant has not been reported in the literature in individuals with GFM1-related conditions.
Natera, Inc. RCV001002676 SCV002081599 pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2021-10-12 no assertion criteria provided clinical testing

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