ClinVar Miner

Submissions for variant NM_130466.4(UBE3B):c.3015+4C>T

gnomAD frequency: 0.00003  dbSNP: rs1333719194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329613 SCV001521103 uncertain significance Oculocerebrofacial syndrome, Kaufman type 2019-03-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546341 SCV003548804 uncertain significance Inborn genetic diseases 2020-12-29 criteria provided, single submitter clinical testing The c.3015+4C>T intronic alteration consists of a C to T substitution 4 nucleotides after exon 27 (coding exon 25) of the UBE3B gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003120552 SCV003795929 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the UBE3B gene. It does not directly change the encoded amino acid sequence of the UBE3B protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with UBE3B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028545). 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 is not likely to affect RNA splicing. 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.

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