ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) (rs144090917)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000299139 SCV000267344 uncertain significance Non-ketotic hyperglycinemia 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics,PreventionGenetics RCV000243554 SCV000302840 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299139 SCV000480516 likely benign Non-ketotic hyperglycinemia 2017-04-28 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.
Invitae RCV000299139 SCV000636350 benign Non-ketotic hyperglycinemia 2020-12-08 criteria provided, single submitter clinical testing
Mendelics RCV000299139 SCV001137744 uncertain significance Non-ketotic hyperglycinemia 2019-05-28 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV000299139 SCV001435262 benign Non-ketotic hyperglycinemia criteria provided, single submitter research The homozygous p.Arg410Lys variant in GLDC has been identified in an individual with non-ketotic hyperglycinaemia (PMID: 12126939), but has also been identified in >2% of Latino chromosomes and 8 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive non-ketotic hyperglycinaemia.
Athena Diagnostics Inc RCV000243554 SCV001475870 benign not specified 2020-02-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000299139 SCV001462765 benign Non-ketotic hyperglycinemia 2020-01-09 no assertion criteria provided clinical testing

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