ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1156G>A (p.Gly386Ser)

gnomAD frequency: 0.00005  dbSNP: rs746155778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756233 SCV001987588 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002538736 SCV003516713 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-07-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 386 of the AIFM1 protein (p.Gly386Ser). This variant is present in population databases (rs746155778, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with AIFM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1302559). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AIFM1 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.
Ambry Genetics RCV002539858 SCV003748580 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.1156G>A (p.G386S) alteration is located in exon 11 (coding exon 11) of the AIFM1 gene. This alteration results from a G to A substitution at nucleotide position 1156, causing the glycine (G) at amino acid position 386 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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