ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)

dbSNP: rs768112611
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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 RCV001970149 SCV002235822 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu511Valfs*25) 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). This variant is present in population databases (rs768112611, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GFM1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252739 SCV002523615 likely pathogenic See cases 2020-03-13 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Baylor Genetics RCV003471167 SCV004199293 likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2023-10-11 criteria provided, single submitter clinical testing

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