ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) (rs104894844)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000011493 SCV000695731 pathogenic Fabry disease 2016-05-23 criteria provided, single submitter clinical testing Variant summary: The GLA c.1192G>T (p.Glu398X) variant results in a premature termination codon, predicted to cause a truncated (lacking 32 AA residues of the C terminus) or absent GLA protein due to nonsense mediated decay. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 87740 control chromosomes. This variant has been reported to manifest a classical phenotype (Eng_AJHM_1993). Miyamura_JCI_1996 showed that deletions of 12 or more AA residues in the C-terminal region resulted in a complete loss of enzyme activity, indicating the functional importance of the C-terminal region. In addition, OMIM and HGMD classified this variant as pathogenic/DM (disease mutation). Taken together, this variant is classified as pathogenic.
OMIM RCV000011493 SCV000031725 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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