Submissions for variant NM_000153.4(GALC):c.41C>G (p.Ala14Gly)

dbSNP: rs373587692

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000338048	SCV000389272	uncertain significance	Galactosylceramide beta-galactosidase 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.
CeGaT Center for Human Genetics Tuebingen	RCV000658703	SCV000780489	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	GALC: BS2
Invitae	RCV000338048	SCV001006025	likely benign	Galactosylceramide beta-galactosidase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000338048	SCV001653406	likely benign	Galactosylceramide beta-galactosidase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000658703	SCV001714494	uncertain significance	not provided	2018-09-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000658703	SCV001805199	likely benign	not provided	2019-10-11	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity	RCV000658703	SCV003808555	likely benign	not provided	2023-10-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930348	SCV004740192	likely benign	GALC-related disorder	2022-01-31	criteria provided, single submitter	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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251992	SCV001427738	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000338048	SCV001461648	uncertain significance	Galactosylceramide beta-galactosidase deficiency	2020-04-23	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000658703	SCV001798778	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000658703	SCV001976054	likely benign	not provided		no assertion criteria provided	clinical testing