ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)

dbSNP: rs1553145023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653913 SCV000775803 uncertain significance Charcot-Marie-Tooth disease type 2 2017-11-30 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MFN2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 504 of the MFN2 protein (p.Leu504Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
GenomeConnect - Invitae Patient Insights Network RCV003330867 SCV004037554 not provided Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 12-11-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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