Submissions for variant NM_000162.5(GCK):c.863+3A>G

dbSNP: rs193922334

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029924	SCV000052579	uncertain	Maturity-onset diabetes of the young type 2	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Uncertain significance.
Athena Diagnostics Inc	RCV000518267	SCV000613466	uncertain significance	not provided	2019-02-14	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463614	SCV002605033	uncertain risk allele	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 rs193922334 in MODY, yet.
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital	RCV002463614	SCV004037056	likely pathogenic	Maturity onset diabetes mellitus in young	2022-11-01	criteria provided, single submitter	clinical testing	minigene showed effect on RNA splicing: presence of residual full-length transcripts and an alternative transcript with deletion of the last 10 bp of exon 7 (r.854_863del, p.Gln286Metfs*5). PS3_M PM5 PM2 PP4