ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1554-1009G>A (rs1055204017)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669325 SCV000794069 likely pathogenic Niemann-Pick disease type C1 2017-09-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000669325 SCV000893489 pathogenic Niemann-Pick disease type C1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000669325 SCV001228470 pathogenic Niemann-Pick disease type C1 2019-02-11 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the NPC1 gene. It does not directly change the encoded amino acid sequence of the NPC1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with biochemical and clinical features of Niemann-Pick type C disease (PMID: 28480683, 20718790, 29453517, 25425405, 23593294). This variant is also known as IVS9 1009G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 553804). Experimental studies have shown that this variant leads to the inclusion of a pseudoexon and a premature termination codon in the mRNA, which results in nonsense mediated decay and loss of protein expression (PMID: 19718781, 28167839). For these reasons, this variant has been classified as Pathogenic.

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