ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro)

dbSNP: rs138072432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001809803 SCV002058333 uncertain significance Charcot-Marie-Tooth disease type 2A2 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MFN2 related disorder (PMID:21840889, PS1_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.771, PP3_P). A missense variant is a common mechanism associated with Charcot-Marie-Tooth disease (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Inherited Neuropathy Consortium RCV000789366 SCV000928721 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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