Submissions for variant NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer)

dbSNP: rs1877096238

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002035394	SCV002230795	pathogenic	not provided	2021-05-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with HNF1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033089). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu341*) in the HNF1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HNF1A are known to be pathogenic (PMID: 15928245, 18003757).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002319739	SCV002604900	pathogenic	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs1877096238 with MODY3.