ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) (rs587779385)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204113 SCV000260751 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 270 of the MTMR2 protein (p.Leu270Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs587779385, ExAC 0.04%). This variant was reported in the heterozygous state in an individual affected with Charcot-Marie-Tooth disease. A second variant in MTMR2 was not identified in this individual (PMID: 25025039). ClinVar contains an entry for this variant (Variation ID: 157536). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Dept. of Medical Genetics, Telemark Hospital Trust RCV000144882 SCV000118593 uncertain significance Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research

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