ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.305C>T (p.Ser102Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004013575 SCV004827418 uncertain significance Fabry disease 2023-08-08 criteria provided, single submitter clinical testing This missense variant replaces serine with leucine at codon 102 of the GLA protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). In vitro functional assays have provided conflicting results with respect to the amount of residual GLA enzyme activity associated with this variant (PMID: 23935525, 27657681, 32023956). This variant has been reported in one female suspected to be affected with Fabry disease (PMID: 23935525). 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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