ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.62T>C (p.Leu21Pro) (rs869312135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000209283 SCV001236084 likely pathogenic Fabry disease 2019-04-03 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 21 of the GLA protein (p.Leu21Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with GLA-related conditions (PMID: 26415523, 30038331, Invitae). ClinVar contains an entry for this variant (Variation ID: 217374). This variant has been reported to affect GLA protein function (PMID: 26415523). For these reasons, this allele has been classified as Likely Pathogenic.
Albrecht-Kossel-Institute,Medical University Rostock RCV000209283 SCV000246021 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209546 SCV000246022 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research

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