Submissions for variant NM_020461.4(TUBGCP6):c.2155-13_2155-12del

dbSNP: rs767506098

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003852219	SCV004662119	likely benign	not provided	2023-03-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV005063194	SCV005726425	likely benign	not specified	2024-11-13	criteria provided, single submitter	clinical testing	Variant summary: TUBGCP6 c.2155-13_2155-12delAT alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 251440 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.2155-13_2155-12delAT in individuals affected with Microcephaly And Chorioretinopathy 1 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely benign.