ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.2536+1G>A (rs1060500001)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471792 SCV000541259 pathogenic Charcot-Marie-Tooth disease type 4 2016-10-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 20 of the SBF2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in SBF2 are known to be pathogenic (PMID: 15304601).This particular variant has been reported in the literature in an individual affected with Charcot-Marie-Tooth disease (CMT) type 1 (PMID: 26392352) and in an individual affected with CMT in the Invitae database. For these reasons, this variant has been classified as Pathogenic.

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