ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704934 SCV000833907 pathogenic Charcot-Marie-Tooth disease type 4 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1176*) in the SBF2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774667470, ExAC 0.01%). This variant has not been reported in the literature in individuals with SBF2-related disease. Loss-of-function variants in SBF2 are known to be pathogenic (PMID: 12687498, 25873783). For these reasons, this variant has been classified as Pathogenic.

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