ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) (rs550562774)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410702 SCV000485432 likely pathogenic Niemann-Pick disease type C1 2016-09-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733999 SCV000862107 likely pathogenic not provided 2018-06-30 criteria provided, single submitter clinical testing
Invitae RCV000410702 SCV001586303 pathogenic Niemann-Pick disease type C1 2020-05-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 825 of the NPC1 protein (p.Tyr825Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Niemann-Pick type C (PMID: 27581084, 16126423, 11349231, 23433426). ClinVar contains an entry for this variant (Variation ID: 370184). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C3). For these reasons, this variant has been classified as Pathogenic. 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000733999 SCV001740521 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000733999 SCV001919623 pathogenic not provided no assertion criteria provided clinical testing

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