Submissions for variant NM_000169.3(GLA):c.947T>C (p.Val316Ala)

dbSNP: rs869312157

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002444818	SCV002683240	uncertain significance	Cardiovascular phenotype	2021-12-20	criteria provided, single submitter	clinical testing	The p.V316A variant (also known as c.947T>C), located in coding exon 6 of the GLA gene, results from a T to C substitution at nucleotide position 947. The valine at codon 316 is replaced by alanine, an amino acid with similar properties. This alteration has been reported in Fabry disease cohorts (Lukas J et al. Hum Mutat, 2016 Jan;37:43-51; Wasserstein MP et al. Genet Med, 2019 03;21:631-640). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV000209520	SCV002790651	uncertain significance	Fabry disease	2022-01-03	criteria provided, single submitter	clinical testing
Albrecht-Kossel-Institute, Medical University Rostock	RCV000209520	SCV000246085	uncertain significance	Fabry disease	2014-01-01	no assertion criteria provided	research
Albrecht-Kossel-Institute, Medical University Rostock	RCV000208961	SCV000246086	drug response	Migalastat response	2014-01-01	no assertion criteria provided	research