ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.1040T>C (p.Met347Thr)

gnomAD frequency: 0.00017  dbSNP: rs774464063
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199931 SCV000251574 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000199931 SCV002211136 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 347 of the GFM2 protein (p.Met347Thr). This variant is present in population databases (rs774464063, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GFM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 214510). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GFM2 protein function. 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.
Baylor Genetics RCV003147396 SCV003835242 uncertain significance Combined oxidative phosphorylation deficiency 39 2022-06-30 criteria provided, single submitter clinical testing

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