ClinVar Miner

Submissions for variant NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)

dbSNP: rs3838786
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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) RCV000297021 SCV000332072 benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000297021 SCV000920243 benign not specified 2018-06-05 criteria provided, single submitter clinical testing Variant summary: SMPD1 c.126_143del18 (p.Ala44_Leu49del) results in an in-frame deletion that is predicted to remove 6 amino acids from the encoded protein. The variant allele was found at a frequency of 0.0069 in 110368 control chromosomes in the ExAC database, including 43 homozygotes. The observed variant frequency is approximately 3.071 fold of the estimated maximal expected allele frequency for a pathogenic variant in SMPD1 causing Niemann-Pick Disease Type A phenotype (0.0022), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.126_143del18 in individuals affected with Niemann-Pick Disease Type A and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV001079218 SCV001116890 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675388 SCV001846325 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675388 SCV000801057 benign not provided 2017-05-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001828178 SCV002091662 benign Niemann-Pick disease, type A 2017-08-09 no assertion criteria provided clinical testing

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