Submissions for variant NM_000169.3(GLA):c.847C>T (p.Gln283Ter)

dbSNP: rs730880452

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000157902	SCV000207833	pathogenic	not provided	2017-03-06	criteria provided, single submitter	clinical testing	The Gln283Stop mutation in the GLA gene has been reported in association with Fabry disease (Tahir H et al., 2007; Laaksonen S et al., 2008). Tahir et al. identified Gln283Stop in a 34 year old female with Fabry disease who received enzyme replacement therapy. Laaksonen et al. also identified Gln283Stop in two unrelated females (ages 41 and 54) with Fabry disease. Gln283Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the GLA gene have been reported in association with Fabry disease.In summary, Gln283Stop in the GLA gene is interpreted as a disease-causing mutation. The variant is found in HCM panel(s).
Eurofins Ntd Llc (ga)	RCV000157902	SCV000331310	pathogenic	not provided	2015-12-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807106	SCV002054397	pathogenic	Fabry disease	2021-07-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000157902	SCV003826349	pathogenic	not provided	2022-04-14	criteria provided, single submitter	clinical testing