ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1468G>A (p.Glu490Lys)

gnomAD frequency: 0.00001  dbSNP: rs1560135430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963402 SCV002247661 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 490 of the GFM1 protein (p.Glu490Lys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 1464186). 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 expected to disrupt GFM1 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.

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