ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) (rs780592540)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588008 SCV000696417 likely pathogenic Niemann-Pick disease, type C 2017-08-03 criteria provided, single submitter clinical testing Variant summary: The c.2670 (p.Tyr890*) variant in NPC1 gene is a nonsense change that results in the loss of the 389 amino acids of the protein (~30%). This change is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is present in the large control population dataset of ExAC at a low frequency of 8.238e-06 (1/121384 chrs tested), which does not exceed the maximal expected frequency of a pathogenic allele (0.0027) in this gene. The variant has been identified in compound heterozygosity with known pathogenic allele in affected siblings presented with the classical biochemical phenotype NPC-1 characterized by massive lysosomal/ LE accumulation of unesterified cholesterol in cultured fibroblasts. Taken together, the variant was classified as Likely Pathogenic.
Counsyl RCV000665306 SCV000789403 likely pathogenic Niemann-Pick disease type C1 2017-02-01 criteria provided, single submitter clinical testing

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