ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.625del (p.Leu209fs)

dbSNP: rs1847921591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital RCV001281400 SCV001468705 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-12-30 criteria provided, single submitter clinical testing
Invitae RCV001281400 SCV004570603 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 992684). This premature translational stop signal has been observed in individual(s) with Niemann‚ÄêPick disease (PMID: 33675270). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu209Cysfs*48) in the SMPD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801).

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