Submissions for variant NM_014425.5(INVS):c.3182dup (p.Asn1061fs)

dbSNP: rs760013326

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000638088	SCV000759568	benign	Nephronophthisis	2025-01-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000728199	SCV000855743	uncertain significance	not provided	2018-06-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003133423	SCV003815644	uncertain significance	Infantile nephronophthisis	2022-04-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330857	SCV004037832	uncertain significance	not specified	2023-08-31	criteria provided, single submitter	clinical testing	Variant summary: INVS c.3182dupA (p.Asn1061LysfsX20) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 0.00013 in 250686 control chromosomes. c.3182dupA has been reported in the literature in a patient with Bardet-Biedl syndrome and a patient with kidney and urinary tract abnormalities without evidence for causality (Nicolaou_2016 and Redin_2012). These reports do not provide unequivocal conclusions about association of the variant with Infantile Nephronophthisis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26489027, 22773737). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as VUS (n=2) and likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV003133423	SCV005679593	uncertain significance	Infantile nephronophthisis	2024-02-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752977	SCV005362826	likely benign	INVS-related disorder	2024-08-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).