ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)

dbSNP: rs758238787
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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 RCV000691536 SCV000819320 pathogenic Nephronophthisis 2021-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 23559409). This variant has not been reported in the literature in individuals with NPHP3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1043*) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences RCV004535722 SCV004109457 likely pathogenic NPHP3-related disorder 2022-09-09 criteria provided, single submitter clinical testing The NPHP3 c.3129T>A variant is predicted to result in premature protein termination (p.Tyr1043*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NPHP3 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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