ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])

dbSNP: rs3838786
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891856 SCV000305091 benign SMPD1-related condition 2022-08-05 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Eurofins Ntd Llc (ga) RCV000248934 SCV000331570 benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000248934 SCV000540392 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589078 SCV000697411 benign not provided 2016-09-02 criteria provided, single submitter clinical testing Variant summary: The SMPD1 c.138_143delGCTGGC (p.Leu47_Ala48del) variant involves an in-frame deletion of 6 nucleotides located in a known repeat region. Mutation taster predicts a benign outcome for this variant. This variant was found in 24716/110368 control chromosomes (6066 homozygotes), being most prevalent in the African subpopulation with a frequency of 0.3228346 (2706/8382). This frequency greatly exceeds the estimated maximal expected allele frequency of a pathogenic SMPD1 variant (0.0022361), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. Multiple publications consider variant as a polymorphism. Considering the high frequency of the variant in the general population, it was classified as benign.
Invitae RCV001512203 SCV001719575 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000589078 SCV001752329 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808669 SCV002057493 benign Niemann-Pick disease, type A 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808670 SCV002057494 benign Niemann-Pick disease, type B 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001512203 SCV002799038 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-04-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000589078 SCV000801059 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing
Natera, Inc. RCV001808669 SCV002091663 benign Niemann-Pick disease, type A 2017-05-15 no assertion criteria provided clinical testing

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