ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1170-19C>T

gnomAD frequency: 0.00002  dbSNP: rs762116919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173050 SCV001336125 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002558746 SCV003006952 uncertain significance Charcot-Marie-Tooth disease type 2E 2022-06-03 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. ClinVar contains an entry for this variant (Variation ID: 916904). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. This variant is present in population databases (rs762116919, gnomAD 0.01%). This sequence change falls in intron 2 of the NEFL gene. It does not directly change the encoded amino acid sequence of the NEFL protein.

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