ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) (rs120074138)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045497 SCV001209352 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-29 criteria provided, single submitter clinical testing 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 is not present in population databases (ExAC no frequency). 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). Loss-of-function variants in SBF2 are known to be pathogenic (PMID: 25873783, 12687498). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003045 SCV000023203 pathogenic Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 2003-05-01 no assertion criteria provided literature only

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