ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)

dbSNP: rs1554934193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634568 SCV000755898 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2018-08-06 criteria provided, single submitter clinical testing This variant has been observed to be homozygous in an individual affected with Niemann-Pick type A (PMID: 19405096). This variant is also known as p.W168X in the literature. ClinVar contains an entry for this variant (Variation ID: 529233). Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp170*) in the SMPD1 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV001004574 SCV001163659 pathogenic Niemann-Pick disease, type A criteria provided, single submitter clinical testing
Natera, Inc. RCV001004574 SCV002091680 pathogenic Niemann-Pick disease, type A 2017-03-17 no assertion criteria provided clinical testing

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