ClinVar Miner

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

dbSNP: rs1569512576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
Invitae RCV001873194 SCV002227345 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 633405). This variant has not been reported in the literature in individuals affected with SBF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp719Argfs*10) in the SBF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SBF1 are known to be pathogenic (PMID: 28005197, 28902413).

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