ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val)

gnomAD frequency: 0.00001  dbSNP: rs780175800
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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 RCV001979490 SCV002257289 likely pathogenic Niemann-Pick disease, type C1 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1465957). 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: 16126423). This variant is present in population databases (rs780175800, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1174 of the NPC1 protein (p.Ala1174Val).

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