Submissions for variant NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)

dbSNP: rs1033766338

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV001535896	SCV001752529	pathogenic	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16	2021-06-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294471	SCV002587410	likely pathogenic	Focal segmental glomerulosclerosis	2020-04-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004536163	SCV004117765	uncertain significance	SDCCAG8-related disorder	2023-02-28	criteria provided, single submitter	clinical testing	The SDCCAG8 c.99_100delAT variant is predicted to result in a frameshift and premature protein termination (p.Ala35Profs*18). Although frameshift variants in SDCCAG8 have been documented as pathogenic, nearly all occur downstream of this variant and none have been documented in this exon. To our knowledge, this variant has not been reported in the literature. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.