ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)

dbSNP: rs386833689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049650 SCV002261499 likely pathogenic Non-ketotic hyperglycinemia 2021-10-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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 AMT protein function. ClinVar contains an entry for this variant (Variation ID: 56238). This variant has been observed in individual(s) with glycine encephalopathy (PMID: 12948742). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 225 of the AMT protein (p.Tyr225Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049650 SCV000082057 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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