ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.630C>A (p.Phe210Leu)

dbSNP: rs1603226664
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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 RCV000802263 SCV000942086 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2018-12-25 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. This variant disrupts the p.Phe210 amino acid residue in AIFM1. Other variant(s) that disrupt this residue have been observed in individuals with AIFM1-related conditions (PMID: 28975462), which suggests that this may be a clinically significant amino acid residue. This variant has been reported to affect AIFM1 protein function (PMID:28888069). This variant has been observed to segregate with clinical features of Charcot-Marie-Tooth disease in a family (PMID: 28888069). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 210 of the AIFM1 protein (p.Phe210Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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