ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)

gnomAD frequency: 0.00070  dbSNP: rs199915216
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000259165 SCV000231555 likely benign not specified 2017-11-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000179323 SCV000280719 uncertain significance not provided 2015-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084948 SCV001036830 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107857 SCV001265044 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000179323 SCV004036210 uncertain significance not provided 2023-03-19 criteria provided, single submitter clinical testing Observed in multiple unrelated individuals with Parkinson disease and also seen in controls (Foo et al., 2013; Deng et al., 2016; Zhao et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23871123, 34867278, 26320887, 27814975, 26377108, 23356216, 29896723, 32668055)
Mayo Clinic Laboratories, Mayo Clinic RCV000179323 SCV005412284 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing BS1, PP3

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