ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) (rs182135982)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788946 SCV000928246 likely pathogenic not provided 2019-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763096 SCV000893634 pathogenic Renal-hepatic-pancreatic dysplasia; Adolescent nephronophthisis; Meckel syndrome type 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000196484 SCV000253971 pathogenic Nephronophthisis 2015-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 606 (p.Trp606*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in NPHP3 are known to be pathogenic (PMID: 23559409). For these reasons, this variant has been classified as Pathogenic.

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