ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.802C>T (p.Arg268Ter) (rs749341977)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587459 SCV000698509 pathogenic Finnish congenital nephrotic syndrome 2016-07-14 criteria provided, single submitter clinical testing Variant summary: The NPHS1 c.802C>T (p.Arg268X) 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. This variant was found in 4/118618 control chromosomes at a frequency of 0.0000337, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPHS1 variant (0.0033541). This variant has been reported in at least 3 NS patients both in compound heterozygosity and homozygously. Taken together, the variant was classified as Pathogenic.

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