ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.3979-4G>A

dbSNP: rs375742620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423303 SCV001625878 likely benign Charcot-Marie-Tooth disease type 4 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354679 SCV002623143 uncertain significance Inborn genetic diseases 2020-04-14 criteria provided, single submitter clinical testing The c.3979-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 30 in the SBF2 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003975457 SCV004793077 likely benign SBF2-related disorder 2021-03-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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