ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.98A>G (p.Asp33Gly)

dbSNP: rs869312136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomenon, Inc, Genomenon, Inc RCV000208990 SCV006336161 likely pathogenic Fabry disease 2025-09-19 criteria provided, single submitter curation GLA c.98A>G is a missense variant that changes the amino acid at residue 33 from Aspartic acid to Glycine. This variant has been observed in at least one proband affected with Fabry disease (PMID:26415523;30834538;30723321;28523190;29853467;27657681;30747154;35743707). The variant was found to segregate with disease in at least one affected family (PMID:35743707). Functional studies have been reported; however, the significance of the findings remain unclear and/or they were performed in patient cells (PMID:32023956;30723321;26415523;27657681). It is absent or not present at a significant frequency in gnomAD. In silico models agree that this variant is possibly or probably damaging. In conclusion, we classify GLA p.Asp33Gly (c.98A>G) as a likely pathogenic variant.
Albrecht-Kossel-Institute, Medical University Rostock RCV000209255 SCV000246024 drug response Migalastat response 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute, Medical University Rostock RCV000208990 SCV000246023 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research

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