Submissions for variant NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)

gnomAD frequency: 0.00014  dbSNP: rs144465428

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730126	SCV000857841	uncertain significance	not provided	2017-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000730126	SCV001820931	uncertain significance	not provided	2024-01-22	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV002485872	SCV002781102	uncertain significance	Niemann-Pick disease, type B; Niemann-Pick disease, type A	2022-03-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002485872	SCV003265801	benign	Niemann-Pick disease, type B; Niemann-Pick disease, type A	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002535142	SCV003676603	likely benign	Inborn genetic diseases	2021-12-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV000730126	SCV005191140	uncertain significance	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003892624	SCV004712321	likely benign	SMPD1-related disorder	2022-01-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).