ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)

gnomAD frequency: 0.00001  dbSNP: rs368370291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002256559 SCV002526737 uncertain significance Charcot-Marie-Tooth disease type 2E 2022-06-01 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1, PM2_SUP
Invitae RCV002256559 SCV003446708 uncertain significance Charcot-Marie-Tooth disease type 2E 2022-05-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 346 of the NEFL protein (p.Ala346Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. ClinVar contains an entry for this variant (Variation ID: 695003). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genesis Genome Database RCV000857198 SCV000999780 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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