Submissions for variant NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)

gnomAD frequency: 0.00003  dbSNP: rs777828182

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000665046	SCV000789103	uncertain significance	Primary hyperoxaluria type 3	2017-01-19	criteria provided, single submitter	clinical testing
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	RCV000665046	SCV004171741	likely pathogenic	Primary hyperoxaluria type 3	2023-10-27	criteria provided, single submitter	clinical testing	ACMG:PM2 PM3 PM4 PP3 PP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003479190	SCV004223844	uncertain significance	not specified	2023-11-14	criteria provided, single submitter	clinical testing	Variant summary: HOGA1 c.943_954dup12 (p.Glu315_Arg318dup) results in an in-frame duplication that is predicted to duplicate four amino acids into the encoded protein. The variant allele was found at a frequency of 3.2e-05 in 251186 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.943_954dup12 has been reported in the literature in individuals affected with Primary Hyperoxaluria, Type III (Martin-Higueras_2021). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 33865885). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.