ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.944A>T (p.Asp315Val)

gnomAD frequency: 0.00017  dbSNP: rs149565564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592720 SCV000702610 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764467 SCV000895532 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-04-05 criteria provided, single submitter clinical testing
Invitae RCV001035032 SCV001198339 uncertain significance Nephronophthisis 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 315 of the NPHP3 protein (p.Asp315Val). This variant is present in population databases (rs149565564, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 497874). 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 NPHP3 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000592720 SCV002542073 uncertain significance not provided 2021-09-07 criteria provided, single submitter clinical testing

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