ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)

gnomAD frequency: 0.00001  dbSNP: rs149055711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281145 SCV001425102 pathogenic Infantile nephronophthisis 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV001281145 SCV002808720 pathogenic Infantile nephronophthisis 2024-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570439 SCV003510766 pathogenic Nephronophthisis 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp495*) 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 present in population databases (rs149055711, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 33532864). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 974395). For these reasons, this variant has been classified as Pathogenic.

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