ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1048G>A (p.Ala350Thr)

dbSNP: rs1555984843
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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 RCV000659174 SCV000780990 likely pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004196 SCV004824308 uncertain significance Fabry disease 2023-06-08 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 350 of the GLA protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with GLA-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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