ClinVar Miner

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 no assertion criteria provided clinical testing

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