ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del) (rs779824626)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729396 SCV000857053 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV001067303 SCV001232357 uncertain significance Nephronophthisis 2020-01-02 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs779824626, ExAC 0.001%). This variant has not been reported in the literature in individuals with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 594171). 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.

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