ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val)

gnomAD frequency: 0.00002  dbSNP: rs760369582
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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) RCV000730402 SCV000858135 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV002536444 SCV003008322 uncertain significance Nephronophthisis 2022-02-20 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 594982). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs760369582, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1336 of the NPHP4 protein (p.Ile1336Val).
PreventionGenetics, part of Exact Sciences RCV003411674 SCV004106118 uncertain significance NPHP4-related condition 2023-01-19 criteria provided, single submitter clinical testing The NPHP4 c.4006A>G variant is predicted to result in the amino acid substitution p.Ile1336Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-5924084-T-C). 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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