ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.3250del (p.Val1084fs) (rs386833935)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049909 SCV000793044 pathogenic Finnish congenital nephrotic syndrome 2017-07-26 criteria provided, single submitter clinical testing
Invitae RCV001205934 SCV001377216 pathogenic not provided 2019-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1084Serfs*59) in the NPHS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386833935, ExAC 0.02%). This variant has been observed in individuals with NPHS1-related nephrotic syndrome (PMID: 10577936, 16518627). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 56496). Loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000049909 SCV000027470 pathogenic Finnish congenital nephrotic syndrome 1999-12-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049909 SCV000082318 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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