Submissions for variant NM_001199107.2(TBC1D24):c.*2G>A

gnomAD frequency: 0.00001  dbSNP: rs780054979

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213762	SCV000272471	uncertain significance	not specified	2015-06-16	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The c.*2G>A variant in TBC1D24 has not been previously reported in individuals with hearing loss, b ut has been identified in 3/64658 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). This variant occurs in the 3' UTR. This genomic region contains regulatory elements essential for the regulati on and transport of the mRNA transcript, and variants in this region could resul t in dysregulation or disruption of these functions. However, the c.*2 nucleotid e position is not conserved across mammals and evolutionarily distant species, m any of which, including 5 mammals, have an adenine (A) base at this position, su ggesting that this variant is tolerated. In summary, while the clinical signific ance of the c.*2G>A variant is uncertain, the conservation data suggests that it is more likely to be benign.
GeneDx	RCV001697189	SCV000526847	likely benign	not provided	2019-12-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697189	SCV002063476	uncertain significance	not provided	2021-12-01	criteria provided, single submitter	clinical testing