ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) (rs1270869520)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696854 SCV000825434 pathogenic Charcot-Marie-Tooth disease type 4 2018-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr7Phefs*7) in the SBF2 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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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