ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.447_471dup (p.Ala158fs)

dbSNP: rs1553775392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486757 SCV000572983 likely pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NPHP3 gene. The c.447_471dup25 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.447_471dup25 variant causes a frameshift starting with codon Alanine 158, changes this amino acid to a Serine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Ala158SerfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the c.447_471dup25 variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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