ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) (rs869312164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000209196 SCV001565325 uncertain significance Fabry disease 2020-04-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 375 of the GLA protein (p.Gly375Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fabry disease (PMID: 26415523, Invitae). ClinVar contains an entry for this variant (Variation ID: 217412). This variant has been reported to affect GLA protein function (PMID: 26415523). This variant disrupts the p.Gly375 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in individuals with GLA-related conditions (PMID: 29019163), which suggests that this may be a clinically significant amino acid residue. 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.
Albrecht-Kossel-Institute,Medical University Rostock RCV000209196 SCV000246101 likely pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209582 SCV000246102 drug response Migalastat response 2014-01-01 no assertion criteria provided research

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