Submissions for variant NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)

gnomAD frequency: 0.00371  dbSNP: rs142178073

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000280282	SCV000338427	benign	not specified	2016-01-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000972278	SCV001119977	benign	Niemann-Pick disease, type B; Niemann-Pick disease, type A	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107112	SCV001264243	likely benign	Niemann-Pick disease, type A	2017-04-28	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.
GeneDx	RCV002285303	SCV002575573	likely benign	not provided	2021-05-21	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Natera, Inc.	RCV001107112	SCV002091655	likely benign	Niemann-Pick disease, type A	2017-05-05	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957444	SCV004773429	benign	SMPD1-related disorder	2023-01-10	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).