ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met)

dbSNP: rs2073100886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352133 SCV001546660 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-03-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1047426). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 666 of the DNM2 protein (p.Ile666Met).

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