ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) (rs119103261)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547064 SCV000657708 likely pathogenic Charcot-Marie-Tooth disease, type 2 2017-08-09 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 357 of the MFN2 protein (p.Lys357Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 15549395). ClinVar contains an entry for this variant (Variation ID: 2274). 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.
OMIM RCV000002362 SCV000022520 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2005-01-01 no assertion criteria provided literature only

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