Submissions for variant NM_178012.5(TUBB2B):c.57+4G>A

gnomAD frequency: 0.00002  dbSNP: rs767477213

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518634	SCV000616223	uncertain significance	not specified	2017-03-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001724037	SCV003462664	uncertain significance	not provided	2022-05-04	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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 448845). This variant has not been reported in the literature in individuals affected with TUBB2B-related conditions. This variant is present in population databases (rs767477213, gnomAD 0.006%). This sequence change falls in intron 1 of the TUBB2B gene. It does not directly change the encoded amino acid sequence of the TUBB2B protein. It affects a nucleotide within the consensus splice site.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724037	SCV001956957	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724037	SCV001965965	likely benign	not provided		no assertion criteria provided	clinical testing