ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.560T>C (p.Met187Thr)

dbSNP: rs869312342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090390 SCV001245921 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004806209 SCV005426154 likely pathogenic Fabry disease 2024-07-23 criteria provided, single submitter clinical testing Functional studies suggest that this variant results in a deleterious effect on the protein (PMID: 31036492). This variant has been reported in multiple individuals with Fabry disease (PMID: 16595074, 29649853, 22551898, 29305833, 31996269, 36624527). This variant is absent from or rare in large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Other missense substitutions at this amino acid residue have been previously reported in individuals with disease and classified as pathogenic, which supports the functional importance of this position. This variant is predicted to be deleterious by in silico analysis.

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