ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) (rs1485445500)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785914 SCV000924490 pathogenic Nephronophthisis 3 2018-06-15 criteria provided, single submitter research The heterozygous p.Arg392Ter variant was identified by our study in the compound heterozygous state, with a pathogenic variant, in one individual with nephronophthisis. This variant has been identified in <0.01% (1/25790) of European (Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs143197357). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Loss of function of the NPHP3 gene is an established disease mechanism in autosomal recessive nephronophthisis, and this is a loss of function variant. In summary, this variant is pathogenic.

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