ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) (rs1569512576)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781831 SCV000920180 likely pathogenic Charcot-Marie-Tooth disease type 4 2018-06-13 criteria provided, single submitter clinical testing Variant summary: SBF1 c.2154_2155delGG (p.Asp719ArgfsTer10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. Two truncation variants have been reported in patients with Autism and Severe axonal neuropathy with cranial nerve involvement, repectively (PMID 23160955, 28005197). Three other missense variants have been reported in patients with Charcot-Marie-Tooth disease (HGMD database). The variant was absent in 245848 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2154_2155delGG in individuals affected with Charcot-Marie-Tooth disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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