ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)

gnomAD frequency: 0.00001  dbSNP: rs104894458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000009007 SCV001201650 pathogenic Niemann-Pick disease, type C2 2023-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects NPC2 function (PMID: 18772377). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 8486). This missense change has been observed in individual(s) with Niemann-Pick disease type C (PMID: 16126423, 23791309). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs104894458, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 120 of the NPC2 protein (p.Pro120Ser).
OMIM RCV000009007 SCV000029221 pathogenic Niemann-Pick disease, type C2 2007-04-01 no assertion criteria provided literature only
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528117 SCV001739322 pathogenic Niemann-Pick disease, type C1 2021-02-09 no assertion criteria provided clinical testing

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