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

dbSNP: rs3838786

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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.
Labcorp Genetics (formerly Invitae), Labcorp	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
Molecular Genetics, Royal Melbourne Hospital	RCV001808670	SCV004812503	benign	Niemann-Pick disease, type B	2023-05-04	criteria provided, single submitter	clinical testing	African/African American population allele frequency is 34.25% (rs1050228, 7876/22434 alleles, 1698 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as BENIGN. Following criteria are met: BA1
PreventionGenetics, part of Exact Sciences	RCV003891856	SCV000305091	benign	SMPD1-related disorder	2022-08-05	no assertion criteria provided	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).
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