ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2686G>A (p.Val896Ile)

dbSNP: rs114847355
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174769 SCV000226135 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001036255 SCV001199608 uncertain significance Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 896 of the INVS protein (p.Val896Ile). This variant is present in population databases (rs114847355, gnomAD 0.1%). This missense change has been observed in individual(s) with focal segmental glomerulosclerosis and/or nephronophthisis-related ciliopathy (PMID: 31131822, 31308072, 33323469). ClinVar contains an entry for this variant (Variation ID: 194405). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000174769 SCV002578456 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing Identified in the published literature in an individual with stage 3 chronic kidney disease who harbored an additional INVS variant (PMID: 31131822); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 33323469, 31328266, 31131822, 31308072)
Fulgent Genetics, Fulgent Genetics RCV002478564 SCV002775155 uncertain significance Infantile nephronophthisis 2024-06-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000174769 SCV005410755 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing BS1, BP4
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002478564 SCV006054508 uncertain significance Infantile nephronophthisis 2021-07-30 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004752771 SCV005351347 uncertain significance INVS-related disorder 2024-03-19 no assertion criteria provided clinical testing The INVS c.2686G>A variant is predicted to result in the amino acid substitution p.Val896Ile. This variant was reported along with additional INVS variants in individuals with focal and segmental glomerulosclerosis or nephronophthisis (Table 3, INVS also described as NPHP2 in Tang et al. 2019. PubMed ID: 31131822; Table S4, Wang et al. 2019. PubMed ID: 31308072; Table S3, Rao et al. 2019. PubMed ID: 31328266). This variant is reported in 0.14% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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