ClinVar Miner

Submissions for variant NM_004429.5(EFNB1):c.128+5G>A

dbSNP: rs2080439797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV001263203 SCV001437563 likely pathogenic Craniofrontonasal syndrome 2016-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003660876 SCV004375155 uncertain significance not provided 2023-04-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 981193). This variant has been observed in individual(s) with clinical features of EFNB1-related condition (PMID: 33288889). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the EFNB1 gene. It does not directly change the encoded amino acid sequence of the EFNB1 protein. It affects a nucleotide within the consensus splice site.

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