ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.331G>A (p.Gly111Ser) (rs756690487)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195270 SCV000247446 pathogenic Galactosylceramide beta-galactosidase deficiency 2015-05-27 criteria provided, single submitter clinical testing
Invitae RCV000195270 SCV001377871 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 111 of the GALC protein (p.Gly111Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs756690487, ExAC 0.009%). This variant has been observed to segregate with Krabbe disease in a family (PMID: 9005874), and has also been observed in individuals affected with Krabbe disease (PMID: 8940268). This variant is also known as c.283G>A (p.Gly95Ser) in the literature. ClinVar contains an entry for this variant (Variation ID: 211058). This variant has been reported to affect GALC protein function (PMID: 27638593). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269999 SCV001450409 likely pathogenic not provided 2018-10-31 criteria provided, single submitter clinical testing

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