ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile)

dbSNP: rs1056740593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654859 SCV000776761 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2022-03-17 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 not expected to disrupt AIFM1 protein function. ClinVar contains an entry for this variant (Variation ID: 543931). This variant has not been reported in the literature in individuals affected with AIFM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 372 of the AIFM1 protein (p.Val372Ile).
Ambry Genetics RCV002440392 SCV002751707 uncertain significance Inborn genetic diseases 2019-09-20 criteria provided, single submitter clinical testing The p.V372I variant (also known as c.1114G>A), located in coding exon 11 of the AIFM1 gene, results from a G to A substitution at nucleotide position 1114. The valine at codon 372 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140046 SCV003823077 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing

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