Submissions for variant NM_000169.3(GLA):c.1124G>C (p.Gly375Ala)

dbSNP: rs869312164

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000209196	SCV001565325	uncertain significance	Fabry disease	2020-04-01	criteria provided, single submitter	clinical testing	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. This variant has been reported to affect GLA protein function (PMID: 26415523). 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 is not present in population databases (ExAC no frequency). 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. 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