Submissions for variant NM_005787.6(ALG3):c.669C>T (p.Leu223=)

gnomAD frequency: 0.00034  dbSNP: rs146607327

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442372	SCV000521781	likely benign	not specified	2016-01-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000873966	SCV001016069	likely benign	ALG3-congenital disorder of glycosylation	2023-11-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000873966	SCV001309954	likely benign	ALG3-congenital disorder of glycosylation	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV004584706	SCV005074636	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ALG3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV004584706	SCV005262994	likely benign	not provided		criteria provided, single submitter	not provided