ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg)

dbSNP: rs886037942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857241 SCV002235517 pathogenic not provided 2022-02-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438736). This missense change has been observed in individual(s) with SLC1A2-related conditions (PMID: 28777935, 31164858, 31618753). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 82 of the SLC1A2 protein (p.Gly82Arg).
OMIM RCV000505595 SCV000599888 pathogenic Developmental and epileptic encephalopathy, 41 2020-11-19 no assertion criteria provided literature only
Center of Excellence for Medical Genomics, Chulalongkorn University RCV000505595 SCV002570080 pathogenic Developmental and epileptic encephalopathy, 41 2002-09-08 no assertion criteria provided research

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