ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)

gnomAD frequency: 0.00002  dbSNP: rs758829443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733557 SCV000861636 likely pathogenic not provided 2018-06-06 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814228 SCV002061485 likely pathogenic Niemann-Pick disease, type C1 2021-07-29 criteria provided, single submitter clinical testing PM1, PM2, PM3
Labcorp Genetics (formerly Invitae), Labcorp RCV001814228 SCV002978961 uncertain significance Niemann-Pick disease, type C1 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1097 of the NPC1 protein (p.Asp1097Asn). This variant is present in population databases (rs758829443, gnomAD 0.003%). This missense change has been observed in individual(s) with Niemann-Pick type C (PMID: 16126423, 26666848, 28222799). ClinVar contains an entry for this variant (Variation ID: 597436). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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