Submissions for variant NM_000308.4(CTSA):c.54G>C (p.Leu18=)

dbSNP: rs181943893

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001084666	SCV000631408	likely benign	Combined deficiency of sialidase AND beta galactosidase	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084666	SCV001301233	uncertain significance	Combined deficiency of sialidase AND beta galactosidase	2018-01-12	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.
GeneDx	RCV000675493	SCV001750949	likely benign	not provided	2020-09-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675493	SCV004154609	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	CTSA: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic	RCV000675493	SCV000801183	likely benign	not provided	2015-12-15	no assertion criteria provided	clinical testing