ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.295T>C (p.Cys99Arg) (rs80358264)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020646 SCV001406857 pathogenic Niemann-Pick disease, type C2 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 99 of the NPC2 protein (p.Cys99Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs80358264, ExAC 0.01%). This variant has been observed to be homozygous in several individuals affected with Niemann-Pick Type C (PMID: 22676771, 15937921). ClinVar contains an entry for this variant (Variation ID: 21458). This variant has been reported to affect NPC2 protein function (PMID: 15937921). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020646 SCV000041171 pathologic Niemann-Pick disease, type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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