Submissions for variant NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)

gnomAD frequency: 0.00282  dbSNP: rs141641266

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224864	SCV000281107	likely benign	not provided	2016-04-19	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000260007	SCV000343585	benign	not specified	2016-07-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082792	SCV000631411	benign	Niemann-Pick disease, type B; Niemann-Pick disease, type A	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000224864	SCV000730052	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30548430, 28475290, 29140481, 26084044, 12369017, 23770607, 23430512)
Counsyl	RCV000671913	SCV000796947	uncertain significance	Niemann-Pick disease, type A	2018-01-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000671913	SCV001264351	likely benign	Niemann-Pick disease, type A	2017-04-27	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224864	SCV001748272	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SMPD1: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000224864	SCV000801067	benign	not provided	2017-06-14	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224864	SCV001741795	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224864	SCV001929557	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000671913	SCV002092280	benign	Niemann-Pick disease, type A	2017-05-08	no assertion criteria provided	clinical testing