ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) (rs759826138)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726075 SCV000341759 pathogenic not provided 2016-05-27 criteria provided, single submitter clinical testing
Counsyl RCV000279978 SCV000486647 pathogenic Niemann-Pick disease type C1 2016-07-12 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267680 SCV001445917 pathogenic Niemann-Pick disease, type C1, juvenile form 2019-05-23 criteria provided, single submitter clinical testing This nonsense variant found in exon 19 of 25 is predicted to result in loss of normal protein function. This variant has been previously reported as a compound heterozygous change in patients with Niemann-Pick disease (PMID: 23773996). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.00039% (1/251158) and thus is presumed to be rare. This variant has been previously classified as Pathogenic by multiple clinical labs in the ClinVar database (Variation ID: 287837). Based on the available evidence, the c.2872C>T (p.Arg958Ter) variant is classified as Pathogenic.

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