ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1101G>C (p.Gln367His)

gnomAD frequency: 0.00024  dbSNP: rs373211062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508148 SCV000604224 uncertain significance not specified 2017-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559610 SCV000657709 likely benign Charcot-Marie-Tooth disease type 2 2024-11-05 criteria provided, single submitter clinical testing
3billion RCV001809462 SCV002058474 uncertain significance Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 2024-07-30 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v4.0.0 dataset (total allele frequency: 0.006%). Damaging effect on gene or gene product predicted by in silico programs is uncertain [REVEL: 0.53 (damaging >=0.6, benign <0.4), 3Cnet: 0.44 (damaging >=0.6, benign <0.15)]. The same nucleotide change resulting in the same amino acid change has been previously reported to be associated with MFN2-related disorder (ClinVar ID: VCV000439898 / PMID: 33415332 / 3billion dataset). A different missense change at the same codon (p.Gln367Pro) has been reported to be associated with MFN2 related disorder (ClinVar ID: VCV002202705 / PMID: 26801520). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Ambry Genetics RCV002431467 SCV002740477 uncertain significance Inborn genetic diseases 2021-01-13 criteria provided, single submitter clinical testing The p.Q367H variant (also known as c.1101G>C), located in coding exon 9 of the MFN2 gene, results from a G to C substitution at nucleotide position 1101. The glutamine at codon 367 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this variant is unlikely to be causative of Charcot-Marie-Tooth disease, axonal, type 2A2A and/or hereditary motor and sensory neuropathy VIA; however, its contribution to the development of Charcot-Marie-Tooth disease, axonal, type 2A2B is uncertain.

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