ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.200T>C (p.Ile67Thr)

gnomAD frequency: 0.00002  dbSNP: rs181900110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331473 SCV001523515 uncertain significance Combined oxidative phosphorylation deficiency 39 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546481 SCV002961988 uncertain significance not provided 2022-08-13 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1030025). This variant has not been reported in the literature in individuals affected with GFM2-related conditions. This variant is present in population databases (rs181900110, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 67 of the GFM2 protein (p.Ile67Thr).

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