ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.624G>T (p.Met208Ile)

dbSNP: rs1928280306
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805477 SCV002053030 uncertain significance Fabry disease 2021-03-09 criteria provided, single submitter clinical testing This missense variant replaces methionine with isoleucine at codon 208 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). A different DNA substitution (c.624G>A) resulting in the same amino acid change as this variant has shown reduced GLA enzyme activity when expressed in HEK293 cells (PMID: 32023956). This variant has not been reported in individuals affected with cardiovascular 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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