ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.645del (p.Ser216fs)

gnomAD frequency: 0.00001  dbSNP: rs751910922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001310284 SCV002813909 likely pathogenic Nephronophthisis-like nephropathy 1 2022-02-11 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001310284 SCV001478482 pathogenic Nephronophthisis-like nephropathy 1 2021-02-10 no assertion criteria provided clinical testing The XPNPEP3 c.645del p. (Ser216Leufs * 7) variant is a frameshift (LoF ) variant resulting in the creation of a premature protein translation termination codon, so it will theoretically generate a protein of only 221 amino acids instead of the 507 which has the protein Xaa-Pro aminopeptidase 3 (protein encoded by the XPNPEP3 gene). This variant has not been previously described in the scientific literature nor does it appear in The Human Gene Mutation Database. It has only been described in two heterozygous individuals in the gnomAD. Following ACMG classification criteria, it is classified as pathogenic.

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