ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.790G>A (p.Val264Ile)

gnomAD frequency: 0.00024  dbSNP: rs772753780
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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) RCV000730984 SCV000858754 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Invitae RCV000815589 SCV000956050 uncertain significance Nephronophthisis 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 264 of the NPHP4 protein (p.Val264Ile). This variant is present in population databases (rs772753780, gnomAD 0.02%). 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: 595439). 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. 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 RCV002485888 SCV002788820 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-04-21 criteria provided, single submitter clinical testing

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