ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp)

gnomAD frequency: 0.00001  dbSNP: rs183140307
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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 RCV001241465 SCV001414483 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 394 of the GFM1 protein (p.Arg394Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs183140307, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with GFM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001836211 SCV002081597 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2020-06-12 no assertion criteria provided clinical testing

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