ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.2160del (p.Ser721fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005048845 SCV005679545 likely pathogenic Infantile nephronophthisis 2024-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005105315 SCV005799949 pathogenic Nephronophthisis 2024-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser721Leufs*22) 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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