ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1302C>T (p.Ser434=)

gnomAD frequency: 0.00674  dbSNP: rs3213918
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000245133 SCV000302706 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332805 SCV000389246 benign Galactosylceramide beta-galactosidase deficiency 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000332805 SCV000627125 benign Galactosylceramide beta-galactosidase deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000245133 SCV000728475 benign not specified 2017-08-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV000332805 SCV002810206 likely benign Galactosylceramide beta-galactosidase deficiency 2021-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675258 SCV000800907 likely benign not provided 2017-05-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000332805 SCV001454066 benign Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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