ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del)

dbSNP: rs779824626
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729396 SCV000857053 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV001067303 SCV001232357 uncertain significance Nephronophthisis 2022-08-22 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 594171). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (rs779824626, gnomAD 0.004%). This variant, c.3964_3966del, results in the deletion of 1 amino acid(s) of the NPHP3 protein (p.Asn1322del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV000729396 SCV001824668 uncertain significance not provided 2019-02-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000729396 SCV003816059 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing

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