ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2206G>A (p.Val736Met) (rs1131692245)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495969 SCV000579477 pathogenic Finnish congenital nephrotic syndrome 2017-01-06 no assertion criteria provided clinical testing The observed variant is not reported in 1000 Genomes database and is likely to be pathogenic by online software like Mutation taster, Polyphen2 and SIFT. Earlier, three siblings died at 1 days to 3.5 months of age. Proband had ascites at 3months, oedema all over,X ray of the chest showed enlarged cardiac shadow with patches of pneumonia, increaed urine protein with lots of RBC and pus and raised potasium level of 6.2 Meq/L,USG showed increae in echogenicity with mild ascites.

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