ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.491C>T (p.Ala164Val) (rs1553142699)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000790032 SCV000929422 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000664056 SCV000787482 uncertain significance Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance, for Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:18458227).

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