ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) (rs138151007)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675579 SCV000344223 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing
Invitae RCV000649022 SCV000770843 uncertain significance Niemann-Pick disease type C1 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 291 of the NPC1 protein (p.Trp291Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is present in population databases (rs138151007, ExAC 0.1%). This variant has not been reported in the literature in individuals with NPC1-related disease. ClinVar contains an entry for this variant (Variation ID: 289805). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics,Fulgent Genetics RCV000649022 SCV000896689 uncertain significance Niemann-Pick disease type C1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000649022 SCV001283585 uncertain significance Niemann-Pick disease type C1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675579 SCV000801270 uncertain significance not provided 2017-05-17 no assertion criteria provided clinical testing

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