Submissions for variant NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)

dbSNP: rs113173389

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078274	SCV000110114	pathogenic	not provided	2013-05-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001854374	SCV002176024	pathogenic	Fabry disease	2021-05-19	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys94 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in individuals with GLA-related conditions (PMID: 31321922, 9100224, 11668641, Invitae), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this variant affects GLA protein function (PMID: 26415523). This variant has been observed in individual(s) with X-linked Fabry disease (PMID: 9100224, Invitae). ClinVar contains an entry for this variant (Variation ID: 92549). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 94 of the GLA protein (p.Cys94Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.
CeGaT Center for Human Genetics Tuebingen	RCV000078274	SCV005092639	likely pathogenic	not provided	2024-07-01	criteria provided, single submitter	clinical testing	GLA: PM1, PM2, PM5, PS4:Moderate