Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804539 | SCV000944453 | pathogenic | not provided | 2018-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser494Cysfs*55) in the NPHS1 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 as homozygous and in combination with another NPHS1 variant in several families and in an unrelated individual affected with nephrotic syndrome (PMID: 10577936, 18614772). ClinVar contains an entry for this variant (Variation ID: 56441). 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 | RCV000049854 | SCV000027469 | pathogenic | Finnish congenital nephrotic syndrome | 1999-12-01 | no assertion criteria provided | literature only | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049854 | SCV000082263 | probable-pathogenic | Finnish congenital nephrotic syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |