ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) (rs141641266)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224864 SCV000281107 likely benign not provided 2016-04-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000260007 SCV000343585 benign not specified 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV001082792 SCV000631411 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000224864 SCV000730052 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30548430, 28475290, 29140481, 26084044, 12369017, 23770607, 23430512)
Counsyl RCV000671913 SCV000796947 uncertain significance Niemann-Pick disease, type A 2018-01-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000671913 SCV001264351 likely benign Niemann-Pick disease, type A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224864 SCV001748272 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000224864 SCV000801067 benign not provided 2017-06-14 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000224864 SCV001741795 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000224864 SCV001929557 likely benign not provided no assertion criteria provided clinical testing

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