Submissions for variant NM_000170.3(GLDC):c.2316-6dup

dbSNP: rs3215923

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253110	SCV000302842	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318636	SCV000480499	benign	Glycine encephalopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318636	SCV000480500	benign	Glycine encephalopathy	2016-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000253110	SCV000919473	benign	not specified	2018-09-27	criteria provided, single submitter	clinical testing	Variant summary: GLDC c.2316-6dupA alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. The variant allele was found at a frequency of 0.3 in 121146 control chromosomes in the ExAC database, including 5555 homozygotes. The observed variant frequency is approximately 97-fold above the estimated maximal expected allele frequency for a pathogenic variant in GLDC causing Glycine Encephalopathy (Non-Ketotic Hyperglycinemia) phenotype (0.0031), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.2316-6dupA in individuals affected with Glycine Encephalopathy (Non-Ketotic Hyperglycinemia) and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Mendelics	RCV000318636	SCV001137743	likely benign	Glycine encephalopathy	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000318636	SCV001729759	benign	Glycine encephalopathy	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001689778	SCV001907304	benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000318636	SCV001933803	benign	Glycine encephalopathy	2021-08-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000318636	SCV002801630	benign	Glycine encephalopathy	2021-10-25	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000318636	SCV001457117	benign	Glycine encephalopathy	2020-09-16	no assertion criteria provided	clinical testing