ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) (rs80358253)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020226 SCV001220716 pathogenic Niemann-Pick disease type C1 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 775 of the NPC1 protein (p.Gln775Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs80358253, ExAC 0.001%). This variant has been observed in individuals with Niemann-Pick Type C (PMID: 11333381, 28222799, 16098014, 20718790). ClinVar contains an entry for this variant (Variation ID: 21134). This variant has been reported to affect NPC1 protein function (PMID: 30923329). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020226 SCV000040569 pathologic Niemann-Pick disease type C1 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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