ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.55G>A (p.Val19Met)

dbSNP: rs1424618809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918818 SCV002184837 uncertain significance Charcot-Marie-Tooth disease type 2E 2021-11-03 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 19 of the NEFL protein (p.Val19Met). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. 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 functional significance of this variant is currently unknown.

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