ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.941C>T (p.Pro314Leu) (rs75863437)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000009056 SCV000267351 uncertain significance Gluthathione synthetase deficiency 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV000601337 SCV000730286 benign not specified 2017-03-22 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.
Invitae RCV000009056 SCV001017324 benign Gluthathione synthetase deficiency 2020-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000009056 SCV001300623 benign Gluthathione synthetase deficiency 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
OMIM RCV000009056 SCV000029273 pathogenic Gluthathione synthetase deficiency 1996-11-01 no assertion criteria provided literature only

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