ClinVar Miner

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

dbSNP: rs114847355
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Total submissions: 4
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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
Invitae RCV001036255 SCV001199608 uncertain significance Nephronophthisis 2024-01-21 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 nephronophthisis-related ciliopathy (PMID: 31131822, 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 2022-04-08 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 (Tang et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33323469, 34426522, 31131822)
Fulgent Genetics, Fulgent Genetics RCV002478564 SCV002775155 uncertain significance Infantile nephronophthisis 2022-05-03 criteria provided, single submitter clinical testing

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