ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) (rs80358260)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586093 SCV000698700 pathogenic Niemann-Pick disease, type C 2017-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000008998 SCV000894036 pathogenic Niemann-Pick disease, type C2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000008998 SCV001211647 pathogenic Niemann-Pick disease, type C2 2020-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu20*) in the NPC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80358260, ExAC 0.01%). This variant has been observed in individuals with Niemann-Pick disease type C (PMID: 11125141, 26666848). ClinVar contains an entry for this variant (Variation ID: 8477). Loss-of-function variants in NPC2 are known to be pathogenic (PMID: 25145893). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000008998 SCV001525184 pathogenic Niemann-Pick disease, type C2 2020-01-31 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000008998 SCV000029212 pathogenic Niemann-Pick disease, type C2 2007-04-01 no assertion criteria provided literature only
GeneReviews RCV000008998 SCV000041174 pathologic Niemann-Pick disease, type C2 2008-07-22 no assertion criteria provided curation Converted during submission to Pathogenic.
Counsyl RCV000008998 SCV000790656 pathogenic Niemann-Pick disease, type C2 2017-03-31 no assertion criteria provided clinical testing
Natera, Inc. RCV000008998 SCV001464118 pathogenic Niemann-Pick disease, type C2 2020-09-16 no assertion criteria provided clinical testing

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