ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.1427A>C (p.Asp476Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002801006 SCV003029399 uncertain significance Nephronophthisis-like nephropathy 1 2022-09-09 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 expected to disrupt XPNPEP3 protein function. This variant has not been reported in the literature in individuals affected with XPNPEP3-related conditions. This variant is present in population databases (rs777080770, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 476 of the XPNPEP3 protein (p.Asp476Ala).

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