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

dbSNP: rs386833918

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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	likely pathogenic	Finnish congenital nephrotic syndrome		no assertion criteria provided	not provided	Converted during submission from probable-pathogenic to Likely pathogenic.
Counsyl	RCV000049892	SCV000795949	pathogenic	Finnish congenital nephrotic syndrome	2017-11-29	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].