ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.449_450AG[1] (p.Ser151fs) (rs749012588)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674386 SCV000799711 likely pathogenic Niemann-Pick disease type C1 2018-05-02 criteria provided, single submitter clinical testing
Mendelics RCV000674386 SCV001140863 pathogenic Niemann-Pick disease type C1 2019-05-28 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267681 SCV001445918 pathogenic Niemann-Pick disease, type C1, juvenile form 2019-05-23 criteria provided, single submitter clinical testing This frameshifting variant in exon 4 of 25 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously reported in the compound heterozygous state in an individual with reduced cholesterol esterification and a classical Niemann-Pick type C disease phenotype (PMID: 11349231) and in the compound heterozygous state in an individual with Niemann-Pick disease type 1C (PMID: 19744920). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0004% (1/246196) and thus is presumed to be rare. This variant has been classified as Likely Pathogenic by a clinical lab in the ClinVar database (Variation ID: 558159). Based on the available evidence, the c.451_452del (p.Ser151PhefsTer18) variant is classified as a Likely Pathogenic.

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