Submissions for variant NM_014874.4(MFN2):c.408A>T (p.Val136=)

gnomAD frequency: 0.00106  dbSNP: rs78814413

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126747	SCV000170260	benign	not specified	2014-05-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000318537	SCV000347974	likely benign	Hereditary motor and sensory neuropathy with optic atrophy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000533582	SCV000347975	likely benign	Charcot-Marie-Tooth disease type 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000533582	SCV000657727	benign	Charcot-Marie-Tooth disease type 2	2025-01-29	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172689	SCV001335755	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727591	SCV001433774	benign	not provided	2022-02-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483251	SCV002803634	likely benign	Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A	2021-08-10	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000126747	SCV005622215	benign	not specified	2024-06-25	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000126747	SCV001920633	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727591	SCV001969456	likely benign	not provided		no assertion criteria provided	clinical testing