Submissions for variant NM_000162.5(GCK):c.25G>T (p.Glu9Ter)

dbSNP: rs1131691483

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000494362	SCV000582210	likely pathogenic	not provided	2015-10-15	criteria provided, single submitter	clinical testing	The E9X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E9X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This nonsense variant in the GCK gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463682	SCV002605190	pathogenic	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs1131691483 in MODY, yet.