ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2861G>A (p.Cys954Tyr)

gnomAD frequency: 0.00003  dbSNP: rs376328340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043641 SCV001207397 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-08-24 criteria provided, single submitter clinical testing
GeneDx RCV001772237 SCV001994417 uncertain significance not provided 2019-08-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002553099 SCV003752336 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.2861G>A (p.C954Y) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a G to A substitution at nucleotide position 2861, causing the cysteine (C) at amino acid position 954 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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