ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.658C>T (p.Arg220Ter) (rs766310671)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169413 SCV000220818 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2014-10-20 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727578 SCV000854820 pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing
Invitae RCV000169413 SCV000939629 pathogenic Galactosylceramide beta-galactosidase deficiency 2019-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg220*) in the GALC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766310671, ExAC 0.01%). This variant has been observed in individuals affected with Krabbe disease (PMID: 16607461, 24252386). It is also known as R204X in the literature. ClinVar contains an entry for this variant (Variation ID: 189024). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). For these reasons, this variant has been classified as Pathogenic.
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV000727578 SCV001468955 pathogenic not provided criteria provided, single submitter clinical testing
Natera, Inc. RCV000169413 SCV001454071 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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