ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1143_1145GGC[1] (p.Ala383del) (rs1553144065)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. RCV000515554 SCV000611626 uncertain significance Charcot-Marie-Tooth disease, type 2A2A; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2017-09-21 criteria provided, single submitter clinical testing The patient is with clinical indications of distal sensory neuropathy, neuropathic tremor, bilateral pyramidal signs, and MRI revealed lacunar infarct trigone. Patient was diagnosed to be affected with hereditary sensory motor neuropathy type 5 and has been evaluated for pathogenic variations in the gene MFN2. A heterozygous three base pair deletion in exon 11 of the MFN2 gene (chr1:12062143_12062145delGGC) that results in an in-frame deletion of amino acid Alanine at codon 383 (p.Ala383del;ENST00000235329) was detected.

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