ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) (rs1243863645)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521088 SCV000617718 likely pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing The c.813_815delCAT variant in the NPC1 gene has been reported in an individual with Neiman-Pick C disease with impaired cholesterol esterification rate who also possessed a second variant in the NPC1 gene (Sun et al.,2001). The c.813_815delCAT variant causes an in-frame deletion of one amino acid, Isoleucine 271, denotedp.Ile271del. This amino acid deletion occurs at a position that is conserved across species. The c.813_815delCATvariant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; ExomeVariant Server).We interpret c.813_815delCAT as a likely pathogenic variant.
Invitae RCV000670904 SCV001213593 uncertain significance Niemann-Pick disease type C1 2019-07-02 criteria provided, single submitter clinical testing This variant, c.813_815del, results in the deletion of 1 amino acid(s) of the NPC1 protein (p.Ile271del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Niemann-Pick disease type C (PMID: 11349231). ClinVar contains an entry for this variant (Variation ID: 449503). 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.
Counsyl RCV000670904 SCV000795818 uncertain significance Niemann-Pick disease type C1 2017-11-17 no assertion criteria provided clinical testing

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