Submissions for variant NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002604198	SCV002950736	pathogenic	not provided	2022-07-26	criteria provided, single submitter	clinical testing	This variant is present in population databases (no rsID available, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. This sequence change creates a premature translational stop signal (p.Glu295*) in the COL4A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A2 are known to be pathogenic (PMID: 22333902, 30315939).
GeneDx	RCV002604198	SCV004036753	uncertain significance	not provided	2023-03-24	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge