Submissions for variant NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)

dbSNP: rs863224022

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000200377	SCV000251523	pathogenic	not provided	2014-04-03	criteria provided, single submitter	clinical testing	p.Phe322Tyr (TTC>TAC): c.965 T>A in exon 5 of the G6PC gene (NM_000151.2). The F322Y mutation has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The F322Y mutation is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this mutation is probably damaging to the protein structure/function. A missense mutation at the same position (F322L) has been reported previously in association with glycogen storage disease Ia (Trioche et al., 2000; Shieh et al., 2002), supporting the functional importance of this region of the protein. Therefore, we interpret F322Y to be a pathogenic mutation. The variant is found in MITONUC-MITOP panel(s).
Counsyl	RCV000667794	SCV000792298	uncertain significance	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	2017-06-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000200377	SCV002063616	uncertain significance	not provided	2021-12-01	criteria provided, single submitter	clinical testing