Submissions for variant NM_000360.4(TH):c.1278G>A (p.Thr426=)

gnomAD frequency: 0.01234  dbSNP: rs36097848

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000334193	SCV000369910	likely benign	Autosomal recessive DOPA responsive dystonia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334223	SCV000483270	likely benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388765	SCV000483271	likely benign	Transient Neonatal Diabetes, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000334193	SCV000563354	benign	Autosomal recessive DOPA responsive dystonia	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000475352	SCV001146180	benign	not provided	2018-12-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000475352	SCV001907683	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464169	SCV002605400	benign	Neonatal insulin-dependent diabetes mellitus		criteria provided, single submitter	research	Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs36097848, yet.
Fulgent Genetics, Fulgent Genetics	RCV000334193	SCV002806476	likely benign	Autosomal recessive DOPA responsive dystonia	2021-07-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000475352	SCV005223147	likely benign	not provided		criteria provided, single submitter	not provided