ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1452G>A (p.Thr484=) (rs150043585)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000198508 SCV000226139 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000198508 SCV000251701 benign not specified 2014-11-14 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.
Invitae RCV000205476 SCV000262335 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205476 SCV000347989 benign Charcot-Marie-Tooth disease, type 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000391814 SCV000347990 benign Hereditary motor and sensory neuropathy with optic atrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000198508 SCV000614084 benign not specified 2017-02-13 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172694 SCV001335760 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200326 SCV001371250 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001200326 SCV001433778 likely benign not provided 2017-06-07 criteria provided, single submitter clinical testing The c.1452G>A; p.Thr484Thr variant (rs150043585, ClinVar ID 194409) does not alter the amino acid sequence of the MFN2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site; however, computational analysis predicts the possible creation of a cryptic splice acceptor site in exon 14, though no published evidence exists to support or refute this prediction. This variant has not been reported in association with mitochondrial disease in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.1% (identified on 153 out of 125,638 chromosomes). Based on the available information, the c.1452G>A variant is likely to be benign.

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