ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.62T>C (p.Leu21Pro)

dbSNP: 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 2019-04-01 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). For these reasons, this allele has been classified as Likely Pathogenic. This variant has been reported to affect GLA protein function (PMID: 26415523). 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).
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 Migalastat response 2014-01-01 no assertion criteria provided research

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