ClinVar Miner

Submissions for variant NM_006841.6(SLC38A3):c.1212G>A (p.Trp404Ter)

dbSNP: rs2109159077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001777080 SCV002012686 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
OMIM RCV002250376 SCV002520621 pathogenic Developmental and epileptic encephalopathy 102 2022-05-25 no assertion criteria provided literature only

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