ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.826G>C (p.Asp276His)

gnomAD frequency: 0.00001  dbSNP: rs121964984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012758 SCV000794781 likely pathogenic Glycine encephalopathy 2017-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000012758 SCV001583208 pathogenic Glycine encephalopathy 2023-02-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 276 of the AMT protein (p.Asp276His). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects AMT function (PMID: 23352163). 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: 11978). This missense change has been observed in individual(s) with glycine encephalopathy (PMID: 16450403, 25231368, 26179960). This variant is present in population databases (rs121964984, gnomAD 0.02%).
Baylor Genetics RCV000012758 SCV004196224 pathogenic Glycine encephalopathy 2023-09-12 criteria provided, single submitter clinical testing
OMIM RCV003230356 SCV000032993 pathogenic Glycine encephalopathy 2 1998-01-01 no assertion criteria provided literature only

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