Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
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, |
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. |
Baylor Genetics | RCV000234879 | SCV001526953 | pathogenic | ALG12-congenital disorder of glycosylation | 2018-09-06 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV000234879 | SCV001259211 | pathogenic | ALG12-congenital disorder of glycosylation | 2020-05-21 | no assertion criteria provided | literature only |