Submissions for variant NM_000545.8(HNF1A):c.1309+16T>C

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003479761	SCV004223504	likely benign	not specified	2023-11-08	criteria provided, single submitter	clinical testing	Variant summary: HNF1A c.1309+16T>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Four predict the variant no significant impact on the canonical 5' donor site. Three predict the variant strengthens/creates a downstream cryptic 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 248580 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1309+16T>C in individuals affected with Maturity Onset Diabetes Of The Young 3 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Fulgent Genetics, Fulgent Genetics	RCV005012987	SCV005634497	uncertain significance	Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma	2024-04-02	criteria provided, single submitter	clinical testing