ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) (rs758253306)

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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 RCV000778989 SCV000915427 uncertain significance Nephronophthisis 4 2017-10-11 criteria provided, single submitter clinical testing The NPHP4 c.1405C>T (p.Arg469Trp) missense variant has been reported in a compound heterozygous state with another missense variant in one individual with renal cysts, (Hoefele et al. 2005). The p.Arg469Trp variant was absent from at least 86 healthy individuals and is reported at a frequency of 0.00009 in the South Asian population of the Genome Aggregation Database. Based on the limited evidence, the p.Arg469Trp variant is classified as a variant of unknown significance but suspicious for pathogenicity for nephronophthisis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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