ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg)

dbSNP: rs398122838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002228189 SCV000773032 pathogenic Distal hereditary motor neuropathy type 2 2021-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change decreases the transactivation activity of the FBXO38 protein product and impairs neurite outgrowth in mouse primary motor neurons (PMID: 24207122). This variant has been reported to segregate with distal spinal muscular atrophy in unrelated families (PMID: 24207122). ClinVar contains an entry for this variant (Variation ID: 91854). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 206 of the FBXO38 protein (p.Cys206Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.
OMIM RCV000077762 SCV000109568 pathogenic Neuronopathy, distal hereditary motor, type 2D 2013-11-07 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV002228189 SCV004174408 uncertain significance Distal hereditary motor neuropathy type 2 2016-01-06 no assertion criteria provided literature only

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