Submissions for variant NM_000235.4(LIPA):c.885C>T (p.His295=)

dbSNP: rs886044197

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000406448	SCV000343911	uncertain significance	not provided	2016-07-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001430761	SCV001633506	likely benign	Wolman disease	2023-09-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446532	SCV002682759	likely benign	Cardiovascular phenotype	2020-09-29	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.
GENinCode PLC	RCV004820014	SCV005441694	likely benign	Lysosomal acid lipase deficiency	2023-04-03	criteria provided, single submitter	clinical testing	This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).