ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.2515del (p.Gln839fs)

dbSNP: rs386833918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049892 SCV000795949 pathogenic Finnish congenital nephrotic syndrome 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853055 SCV002197172 pathogenic not provided 2022-07-18 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with congenital nephrotic syndrome (PMID: 19321760). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln839Argfs*8) in the NPHS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). ClinVar contains an entry for this variant (Variation ID: 56479). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000049892 SCV004191425 pathogenic Finnish congenital nephrotic syndrome 2024-01-20 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049892 SCV000082301 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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