ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2598G>T (p.Met866Ile)

gnomAD frequency: 0.00002  dbSNP: rs1019159514
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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) RCV000597781 SCV000704034 uncertain significance not provided 2016-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867940 SCV002226653 uncertain significance Niemann-Pick disease, type C1 2021-11-15 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 866 of the NPC1 protein (p.Met866Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 498823). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV001867940 SCV002799626 uncertain significance Niemann-Pick disease, type C1 2022-03-02 criteria provided, single submitter clinical testing

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