ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.895C>T (p.Arg299Cys) (rs753476209)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000319702 SCV000411580 uncertain significance Finnish congenital nephrotic syndrome 2017-04-27 criteria provided, single submitter clinical testing The NPHS1 c.895C>T (p.Arg299Cys) variant has been reported in one study and is found in a homozygous state in one patient with congenital Finnish nephrosis (Schoeb et al. 2010). The p.Arg299Cys variant was absent from 93 healthy controls in the study (Schoeb et al. 2010). The p.Arg299Cys variant is reported at a frequency of 0.00002 in the Total population of the Exome Aggregation Consortium but this is based on two alleles, so the variant is presumed to be rare. The evidence for this variant is limited. The p.Arg299Cys variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for congenital nephrotic syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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