ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1232G>A (p.Gly411Asp)

gnomAD frequency: 0.00001  dbSNP: rs753549726
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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 RCV001207094 SCV001378433 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2022-08-05 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. 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 AIFM1 protein function. ClinVar contains an entry for this variant (Variation ID: 937959). This missense change has been observed in individual(s) with clinical features of AIFM1-related conditions (PMID: 33146414). This variant is present in population databases (rs753549726, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 411 of the AIFM1 protein (p.Gly411Asp).

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