ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3796G>A (p.Val1266Ile)

dbSNP: rs758615952
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187664 SCV000241261 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing The V1266I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1266I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This 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.

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