Submissions for variant NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)

dbSNP: rs869312249

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000011519	SCV001341023	uncertain significance	Fabry disease	2018-12-04	criteria provided, single submitter	clinical testing	This variant deletes 2 nucleotides in exon 7 of the GLA gene, creating a frameshift and premature translation stop signal. This results in a replacement of the last 4 amino acids of the GLA protein with 23 new amino acids before introducing a translation stop signal. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity	RCV001781221	SCV002024331	pathogenic	not provided	2019-10-28	criteria provided, single submitter	clinical testing
OMIM	RCV000011519	SCV000031751	pathogenic	Fabry disease	2003-07-01	no assertion criteria provided	literature only