ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala)

dbSNP: rs1393555703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253082 SCV001428607 likely pathogenic Intellectual disability, autosomal dominant 8 2021-03-11 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Invitae RCV001253082 SCV002235443 pathogenic Intellectual disability, autosomal dominant 8 2021-10-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GRIN1 protein function. ClinVar contains an entry for this variant (Variation ID: 975942). This missense change has been observed in individual(s) with clinical features of GRIN1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 638 of the GRIN1 protein (p.Gly638Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.

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