ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup) (rs1553775768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498156 SCV000590772 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NPHP3 gene. The c.169_174dupCCCGGG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.169_174dupCCCGGG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.169_174dupCCCGGG variant results in an in-frame duplication of two amino acids, denoted p.P57_G58dup. This variant occurs at a position that is conserved across species. This variant occurs at a position that is conserved in mammals. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000810341 SCV000950537 uncertain significance Nephronophthisis 2018-10-10 criteria provided, single submitter clinical testing This variant, c.169_174dupCCCGGG, results in the insertion of 2 amino acid(s) to the NPHP3 protein (p.Pro57_Gly58dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPHP3-related disease. ClinVar contains an entry for this variant (Variation ID: 432989). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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