ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) (rs386833889)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049860 SCV000789515 likely pathogenic Finnish congenital nephrotic syndrome 2017-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000487117 SCV000568764 pathogenic not provided 2018-01-19 criteria provided, single submitter clinical testing The S572N variant in the NPHS1 gene has been reported previously in the presence of a second NPHS1 variant in a few individuals with nephrotic syndrome (Gigante et al., 2005; Schoeb et al., 2010). The S572N variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The S572N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret S572N as a pathogenic variant.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049860 SCV000082269 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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