Submissions for variant NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)

dbSNP: rs1555985004

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000598025	SCV000706886	pathogenic	not provided	2017-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001298999	SCV001488075	uncertain significance	Fabry disease	2020-06-24	criteria provided, single submitter	clinical testing	This variant, c.842_844del, is a complex sequence change that results in the deletion of two and insertion of one amino acid(s) in the GLA protein (p.Val281_Thr282delinsAla). This variant is not present in population databases (ExAC no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with Fabry disease (PMID: 11322659, Invitae). This variant is also known as 842delTAA in the literature. ClinVar contains an entry for this variant (Variation ID: 500793).
Genome-Nilou Lab	RCV001298999	SCV002054804	uncertain significance	Fabry disease	2021-07-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000598025	SCV003816856	uncertain significance	not provided	2022-07-28	criteria provided, single submitter	clinical testing