ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)

gnomAD frequency: 0.06910  dbSNP: rs17849848
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152769 SCV000202157 benign not specified 2018-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000152769 SCV000517779 benign not specified 2015-12-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625087 SCV000743747 likely benign ALG1-congenital disorder of glycosylation 2015-01-07 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625087 SCV000745151 benign ALG1-congenital disorder of glycosylation 2017-05-31 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258273 SCV001435198 benign Kabuki syndrome 1 criteria provided, single submitter research The p.Ser267Asn variant in ALG1 has been identified in 1 individual with congenital disorder of glycosylation (PMID: 23806237). However, this variant is classified as benign for autosomal recessive congenital disorder of glycosylation because it has been identified in >25% of Latino chromosomes by ExAC (http://gnomad.broadinstitute.org/).
Invitae RCV000625087 SCV001728179 benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152769 SCV002050996 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing

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