ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr)

gnomAD frequency: 0.00010  dbSNP: rs772308346
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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 RCV001062623 SCV001227437 likely benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2023-09-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166795 SCV001329211 likely benign Severe X-linked mitochondrial encephalomyopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV002451266 SCV002614367 uncertain significance Inborn genetic diseases 2020-12-18 criteria provided, single submitter clinical testing The p.A114T variant (also known as c.340G>A), located in coding exon 3 of the AIFM1 gene, results from a G to A substitution at nucleotide position 340. The alanine at codon 114 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.004385% (9/205228) total alleles studied, with 4 hemizygotes observed. The highest observed frequency was 0.01876% (1/5331) of Other alleles. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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.

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