ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.763C>T (p.Pro255Ser)

gnomAD frequency: 0.00001  dbSNP: rs373815982
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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 RCV001927629 SCV002175067 uncertain significance Niemann-Pick disease, type C1 2024-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 255 of the NPC1 protein (p.Pro255Ser). This variant is present in population databases (rs373815982, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1404042). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NPC1 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 RCV002261415 SCV002541456 uncertain significance not provided 2021-12-15 criteria provided, single submitter clinical testing

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