Submissions for variant NM_024105.4(ALG12):c.1001del (p.Asn334fs) (rs759244819)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000234879	SCV000267591	pathogenic	ALG12-congenital disorder of glycosylation	2014-04-01	criteria provided, single submitter	clinical testing	This variant was found in trans with pathogenic variant NM_024105.3:c.117delG in an individual with congenital disorder of glycosylation type Ig.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	RCV000234879	SCV001443732	pathogenic	ALG12-congenital disorder of glycosylation	2019-11-07	criteria provided, single submitter	clinical testing	This frameshifting variant in exon 8 of 10 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously reported as a compound heterozygous change in patients with Congenital disorder of glycosylation type Ig (PMID: 25019053). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0052% (13/251142) and thus is presumed to be rare. Based on the available evidence, the c.1001del (p.Asn334ThrfsTer15) variant is classified as Pathogenic.
OMIM	RCV000234879	SCV001259211	pathogenic	ALG12-congenital disorder of glycosylation	2020-05-21	no assertion criteria provided	literature only