ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.467T>C (p.Met156Thr)

gnomAD frequency: 0.00012  dbSNP: rs147615070
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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) RCV000335012 SCV000339055 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335215 SCV001528309 uncertain significance Niemann-Pick disease, type C1 2018-04-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001335215 SCV002968090 uncertain significance Niemann-Pick disease, type C1 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 156 of the NPC1 protein (p.Met156Thr). This variant is present in population databases (rs147615070, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of NPC1-related conditions (PMID: 25497598). ClinVar contains an entry for this variant (Variation ID: 285856). 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: "Benign"; Align-GVGD: "Class C25"). 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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