ClinVar Miner

Submissions for variant NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg)

dbSNP: rs2144276285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002544317 SCV003442640 pathogenic not provided 2022-05-21 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 SMAD2 protein function. ClinVar contains an entry for this variant (Variation ID: 1327531). This missense change has been observed in individual(s) with SMAD2-related conditions (PMID: 26247899). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 457 of the SMAD2 protein (p.Gly457Arg).
OMIM RCV001789796 SCV002032164 pathogenic Loeys-Dietz syndrome 6 2021-12-10 no assertion criteria provided literature only

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