ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.59C>A (p.Ala20Asp) (rs869312134)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000209573 SCV001212709 likely pathogenic Fabry disease 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 20 of the GLA protein (p.Ala20Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fabry disease (external communication). ClinVar contains an entry for this variant (Variation ID: 217373). This variant has been reported to affect GLA protein function (PMID: 26415523, 27657681). This variant disrupts the p.Ala20 amino acid residue in GLA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26415523, 17555407, 27657681, 23935525, 7596372). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Albrecht-Kossel-Institute,Medical University Rostock RCV000209573 SCV000246019 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000208891 SCV000246020 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research

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