ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.656A>G (p.Asp219Gly) (rs28938472)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000984989 SCV001337769 pathogenic Gluthathione synthetase deficiency 2020-01-13 criteria provided, single submitter clinical testing Variant summary: GSS c.656A>G (p.Asp219Gly) results in a non-conservative amino acid change located in the Glutathione synthase, substrate-binding domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251476 control chromosomes. c.656A>G has been reported in the literature in multiple individuals affected with Glutathione Synthetase Deficiency (ie. Njalsson_2005, Corrons_2001, Shi_1996). These data indicate that the variant is very likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000009057 SCV000029274 pathogenic Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 2001-02-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000984989 SCV001132915 pathogenic Gluthathione synthetase deficiency 2019-08-25 no assertion criteria provided clinical testing

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