ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr)

gnomAD frequency: 0.00028  dbSNP: rs202199543
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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) RCV000594765 SCV000708374 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV001358885 SCV001554742 uncertain significance Nephronophthisis 2023-06-15 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPHP4 protein function. ClinVar contains an entry for this variant (Variation ID: 501862). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs202199543, gnomAD 0.1%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 429 of the NPHP4 protein (p.Ser429Thr).
Fulgent Genetics, Fulgent Genetics RCV002498867 SCV002782098 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-05-05 criteria provided, single submitter clinical testing

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