Submissions for variant NM_000235.4(LIPA):c.615C>T (p.Ser205=)

dbSNP: rs143930279

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001082890	SCV000365990	uncertain significance	Lysosomal acid lipase deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000313645	SCV000365991	uncertain significance	Wolman disease	2016-06-14	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000734099	SCV000862211	uncertain significance	not provided	2018-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000313645	SCV001036483	likely benign	Wolman disease	2024-01-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001082890	SCV001737191	uncertain significance	Lysosomal acid lipase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356414	SCV002660376	likely benign	Cardiovascular phenotype	2019-07-08	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.
CeGaT Center for Human Genetics Tuebingen	RCV000734099	SCV004127056	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	LIPA: BP4, BP7
Natera, Inc.	RCV001082890	SCV001456942	uncertain significance	Lysosomal acid lipase deficiency	2020-04-11	no assertion criteria provided	clinical testing