ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.239G>A (p.Gly80Asp) (rs781838005)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Albrecht-Kossel-Institute,Medical University Rostock RCV000209421 SCV000246033 likely pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209815 SCV000246034 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732705 SCV000860685 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000209421 SCV000919435 likely pathogenic Fabry disease 2017-11-28 criteria provided, single submitter clinical testing Variant summary: The GLA c.239G>A (p.Gly80Asp) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. One in vitro study showed this variant to be associate with in vitro enzyme activity of approximately 30% (Lukas_2016). This variant is absent in 178668 control chromosomes (gnomAD). This variant was reported as a mild disease associated variant in FD patients (Lukas_2016). In addition, one clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as likely pathogenic until more definitive functional and clinical data become available.
Invitae RCV000209421 SCV000748699 uncertain significance Fabry disease 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 80 of the GLA protein (p.Gly80Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Fabry disease (PMID: 26415523). ClinVar contains an entry for this variant (Variation ID: 217380). Experimental studies have shown that this missense change decreases GLA enzyme activity in vitro (PMID: 26415523). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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