Submissions for variant NM_022489.4(INF2):c.2879-20G>C

gnomAD frequency: 0.00001  dbSNP: rs879254306

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235833	SCV000294135	uncertain significance	not provided	2016-04-12	criteria provided, single submitter	clinical testing	The c.2879-20 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2879-20 G>C variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.2879-20 G>C creates a cryptic acceptor site upstream of the natural acceptor, which may supplant the natural acceptor site in intron 19 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057263	SCV002430798	likely benign	Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E	2021-12-05	criteria provided, single submitter	clinical testing