ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val)

gnomAD frequency: 0.00008  dbSNP: rs745698836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592158 SCV000706105 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV001205389 SCV001376643 uncertain significance Nephronophthisis 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 698 of the NPHP4 protein (p.Ala698Val). This variant is present in population databases (rs745698836, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 500245). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002476317 SCV002779382 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-05-04 criteria provided, single submitter clinical testing

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