ClinVar Miner

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

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Total submissions: 3
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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

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