ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.806G>A (p.Gly269Asp)

dbSNP: rs121964981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000012754 SCV003525328 uncertain significance Glycine encephalopathy 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 269 of the AMT protein (p.Gly269Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with glycine encephalopathy (PMID: 8005589). ClinVar contains an entry for this variant (Variation ID: 11974). 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 AMT protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV003230353 SCV005662583 likely pathogenic Glycine encephalopathy 2 2024-06-23 criteria provided, single submitter clinical testing
OMIM RCV003230353 SCV000032989 pathogenic Glycine encephalopathy 2 1994-06-01 no assertion criteria provided literature only

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