ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)

dbSNP: rs777677768
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179740 SCV000232037 uncertain significance not provided 2014-11-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362732 SCV000415920 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270468 SCV000415921 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309235 SCV000415922 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000270468 SCV001380742 uncertain significance Nephronophthisis 2024-01-08 criteria provided, single submitter clinical testing This variant, c.644_646dup, results in the insertion of 1 amino acid(s) of the NPHP1 protein (p.Glu215dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777677768, gnomAD 0.07%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 198410). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
GeneDx RCV000179740 SCV001873683 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000179740 SCV002541850 uncertain significance not provided 2021-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485176 SCV002784209 likely benign Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2024-03-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000179740 SCV005187856 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004734799 SCV005346070 uncertain significance NPHP1-related disorder 2024-07-23 no assertion criteria provided clinical testing The NPHP1 c.644_646dupAAG variant is predicted to result in an in-frame duplication (p.Glu215dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.072% of alleles in individuals of Latino descent in gnomAD. Although we suspect this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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