ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.446C>T (p.Ala149Val) (rs59101996)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364663 SCV001560822 uncertain significance Charcot-Marie-Tooth disease type 2E 2020-04-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 149 of the NEFL protein (p.Ala149Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant Charcot-Marie-Tooth disease (PMID: 12477167). This variant has also been reported as c.443C>T (p.Ala148Val). ClinVar contains an entry for this variant (Variation ID: 41237). This variant has been reported to affect NEFL protein function (PMID: 19123978). 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.
GeneReviews RCV000034137 SCV000058068 pathologic Charcot-Marie-Tooth disease, demyelinating, type 1f 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057139 SCV000088252 not provided not provided no assertion provided not provided

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