ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) (rs387906991)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV000240513 SCV000787795 pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2018-04-25 no assertion criteria provided clinical testing
OMIM RCV000023716 SCV000045007 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2011-07-12 no assertion criteria provided literature only
OMIM RCV000240513 SCV000298224 pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2011-07-12 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000240513 SCV000787447 likely pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:21715711). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS4-Moderate => PS4 downgraded in strength to Moderate (PMID:16835246, 21715711, 18458227).

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