ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3043T>G (p.Ser1015Ala)

gnomAD frequency: 0.00001  dbSNP: rs574130239
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704193 SCV000833132 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-07-08 criteria provided, single submitter clinical testing
GeneDx RCV002534423 SCV003195053 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV002534423 SCV005074294 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing GRIN2B: PM2, PP2, BP4
Ambry Genetics RCV004972895 SCV005592402 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.3043T>G (p.S1015A) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a T to G substitution at nucleotide position 3043, causing the serine (S) at amino acid position 1015 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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