ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.350C>T (p.Ala117Val)

gnomAD frequency: 0.00001  dbSNP: rs145943366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801623 SCV000941407 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 117 of the AIFM1 protein (p.Ala117Val). This variant is not present in population databases (gnomAD no frequency). 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: 647178). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002458469 SCV002616352 uncertain significance Inborn genetic diseases 2020-10-12 criteria provided, single submitter clinical testing The p.A117V variant (also known as c.350C>T) is located in coding exon 4 of the AIFM1 gene. The alanine at codon 117 is replaced by valine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 4. Based on data from gnomAD, this allele has an overall frequency of 0.0005% (1/181594) total alleles studied, with 0 hemizygotes observed. This amino acid position is well conserved in available vertebrate species. In addition, as a missense substitution 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.

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