Submissions for variant NM_004646.3(NPHS1):c.1020del (p.Ser341fs) (rs1555763372)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Integrated Genetics/Laboratory Corporation of America	RCV000586227	SCV000698494	likely pathogenic	Finnish congenital nephrotic syndrome	2017-05-25	criteria provided, single submitter	clinical testing	Variant summary: The NPHS1 c.1020delT (p.Ser341Valfs) variant results in a premature termination codon, predicted to cause a truncated or absent NPHS1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Arg1109X and p.Arg1160X). This variant is absent in 121118 control chromosomes from ExAC. This variant has been reported in two patients with Nephrotic Syndrome, one of whom was known to be homozygous for this variant and had steroid-resistant nephrotic syndrome (Machuca_2010, Sadowski_2015). One database (HGMD) considers it as disease-causing. Based on the currently available data, this variant is classified as likely pathogenic.
Counsyl	RCV000586227	SCV000797675	likely pathogenic	Finnish congenital nephrotic syndrome	2018-02-06	criteria provided, single submitter	clinical testing

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