Submissions for variant NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)

dbSNP: rs1555064204

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000627365	SCV000748358	uncertain significance	not provided	2018-04-13	criteria provided, single submitter	clinical testing	The Q594X variant in the ALG9 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation with a loss of the final 25 amino acid residues. The Q594X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q594X as a variant of uncertain significance.
Invitae	RCV000814516	SCV000954929	uncertain significance	ALG9 congenital disorder of glycosylation	2018-09-12	criteria provided, single submitter	clinical testing	This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the ALG9 gene (p.Gln594*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acids of the ALG9 protein. This variant has not been reported in the literature in individuals with ALG9-related disease. ClinVar contains an entry for this variant (Variation ID: 523889). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.