ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.466G>A (p.Val156Ile)

dbSNP: rs1555133189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658428 SCV000780200 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GRIN2B gene. The V156I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V156I variant is not observed in large population cohorts (Lek et al., 2016). However, the V156I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001296560 SCV001485526 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-09-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000844991 SCV000986818 not provided GRIN2B-related disorder no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05/31/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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