ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) (rs80358252)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003108 SCV000221079 likely pathogenic Niemann-Pick disease type C1 2015-01-23 criteria provided, single submitter literature only
Ambry Genetics RCV000623140 SCV000742791 likely pathogenic Inborn genetic diseases 2017-08-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730873 SCV000858640 pathogenic not provided 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000003108 SCV001579549 pathogenic Niemann-Pick disease type C1 2020-06-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 177 of the NPC1 protein (p.Cys177Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. 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: 16098014, 11479732, 28222799). ClinVar contains an entry for this variant (Variation ID: 2974). 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: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003108 SCV000023266 pathogenic Niemann-Pick disease type C1 2001-07-01 no assertion criteria provided literature only
GeneReviews RCV000003108 SCV000040579 pathologic Niemann-Pick disease type C1 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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