ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1367del (p.Gly456fs)

dbSNP: rs1564177022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003748596 SCV004377409 pathogenic Nephronophthisis 2023-07-06 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). 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. This sequence change creates a premature translational stop signal (p.Gly456Glufs*54) 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).
Fulgent Genetics, Fulgent Genetics RCV005051350 SCV005679513 likely pathogenic Infantile nephronophthisis 2024-02-20 criteria provided, single submitter clinical testing

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