ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)

gnomAD frequency: 0.00012  dbSNP: rs202219398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235074 SCV000292347 likely pathogenic Charcot-Marie-Tooth disease X-linked recessive 4 2015-08-18 criteria provided, single submitter research Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) and consistent with neuropathy of patient. Patient also had Sotos syndrome with de novo frameshift insertion in NSD1
Invitae RCV000538656 SCV000658927 benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000837953 SCV000979815 likely benign not provided 2021-01-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26257172, 32376792)
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV003319977 SCV004023413 likely pathogenic Tip-toe gait 2021-03-12 no assertion criteria provided clinical testing

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