ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)

gnomAD frequency: 0.00001  dbSNP: rs121964994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788845 SCV000928112 likely pathogenic not provided 2018-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000816190 SCV000956685 pathogenic Nephronophthisis 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg603*) 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 (rs121964994, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 12872123, 21866095). ClinVar contains an entry for this variant (Variation ID: 11959). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000012737 SCV004804987 pathogenic Infantile nephronophthisis 2024-03-17 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000012737 SCV005679533 pathogenic Infantile nephronophthisis 2024-04-23 criteria provided, single submitter clinical testing
OMIM RCV000012737 SCV000032972 pathogenic Infantile nephronophthisis 2003-08-01 no assertion criteria provided literature only

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