ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)

dbSNP: rs120074138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045497 SCV001209352 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg1196*) in the SBF2 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 12687498). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2911). This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in SBF2 are known to be pathogenic (PMID: 25873783, 12687498).
OMIM RCV004700181 SCV000023203 pathogenic Charcot-Marie-Tooth disease type 4B2 2003-05-01 no assertion criteria provided literature only

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