ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)

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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 RCV003605552 SCV004474123 likely pathogenic Niemann-Pick disease, type C1 2023-05-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 NPC1 protein function. This missense change has been observed in individual(s) with Niemann-Pick type C (PMID: 28865947). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 856 of the NPC1 protein (p.Val856Ala).

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