Submissions for variant NM_000162.5(GCK):c.45+3A>G

dbSNP: rs1554340088

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000497841	SCV000590219	uncertain significance	not provided	2018-01-17	criteria provided, single submitter	clinical testing	The c.45+3 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.45+3 A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.45+3 A>G damages or destroys the natural splice donor site for inton 1 and leads to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463685	SCV002605183	uncertain significance	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 rs1554340088 in MODY, yet.