ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.692C>T (p.Ser231Phe) (rs1569842714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232114 SCV001404660 likely pathogenic Charcot-Marie-Tooth disease, type 2 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 231 of the MFN2 protein (p.Ser231Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 24444136). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 637741). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Inherited Neuropathy Consortium RCV000790036 SCV000929426 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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