ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1711del (p.Tyr571fs)

dbSNP: rs1057517455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412209 SCV000487311 likely pathogenic Niemann-Pick disease, type C1 2016-11-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003486822 SCV004241990 pathogenic Niemann-Pick disease, type C 2023-12-08 criteria provided, single submitter clinical testing Variant summary: NPC1 c.1711delT (p.Tyr571IlefsX21) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251368 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1711delT in individuals affected with Niemann-Pick Disease Type C and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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