Submissions for variant NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV004529261	SCV004112297	likely pathogenic	SDCCAG8-related disorder	2023-04-20	criteria provided, single submitter	clinical testing	The SDCCAG8 c.862C>T variant is predicted to result in premature protein termination (p.Gln288*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SDCCAG8 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003778259	SCV004572128	pathogenic	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16	2023-09-28	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln288*) in the SDCCAG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions.