ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) (rs373962831)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000283252 SCV000358474 uncertain significance Nephronophthisis 4 2017-04-28 criteria provided, single submitter clinical testing The NPHP4 c.2260G>A (p.Gly754Arg) missense variant has been reported in one study in which it is found in a compound heterozygous state with a splice site variant in two siblings with nephronophthisis (Otto et al. 2002). These siblings inherited the p.Gly754Arg variant from their unaffected father and the splice site variant from their mother. The variant was absent from 92 controls and is reported at a frequency of 0.00012 in the European American population of the Exome Sequencing Project, although this is based on only one allele. The evidence for this variant is limited. The p.Gly754Arg variant is therefore 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.
Illumina Clinical Services Laboratory,Illumina RCV000338114 SCV000358475 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592408 SCV000709023 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing

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