ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val)

dbSNP: rs757964370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001364969 SCV001561180 uncertain significance Nephronophthisis 2023-07-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1056181). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (rs757964370, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1278 of the NPHP3 protein (p.Glu1278Val). 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.
Fulgent Genetics, Fulgent Genetics RCV002504598 SCV002800942 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-11-05 criteria provided, single submitter clinical testing

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