ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2618dup (p.Ser874fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003830939 SCV004635336 pathogenic Nephronophthisis 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser874Ilefs*2) in the INVS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in INVS are known to be pathogenic (PMID: 12872123). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with INVS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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