ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) (rs119456962)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174180 SCV000225438 pathogenic not provided 2014-09-19 criteria provided, single submitter clinical testing
Invitae RCV001239221 SCV001412076 pathogenic Nephronophthisis 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg577*) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nephronophthisis (PMID: 18371931). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2636). Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002755 SCV000022913 pathogenic Meckel syndrome type 7 2008-04-01 no assertion criteria provided literature only

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