Submissions for variant NM_006642.5(SDCCAG8):c.511G>T (p.Glu171Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV004759448	SCV005371531	likely pathogenic	not provided	2024-03-27	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV005221019	SCV005862447	pathogenic	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16	2024-11-15	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu171*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV004735013	SCV005346199	likely pathogenic	SDCCAG8-related disorder	2024-06-30	no assertion criteria provided	clinical testing	The SDCCAG8 c.511G>T variant is predicted to result in premature protein termination (p.Glu171*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in SDCCAG8 are expected to be pathogenic. This variant is interpreted as likely pathogenic.