ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.909-10A>G

gnomAD frequency: 0.00002  dbSNP: rs398123178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078209 SCV000110047 uncertain significance not provided 2012-08-31 criteria provided, single submitter clinical testing
Invitae RCV000695814 SCV000824335 uncertain significance Galactosylceramide beta-galactosidase deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the GALC gene. It does not directly change the encoded amino acid sequence of the GALC protein. This variant is present in population databases (rs398123178, ExAC 0.003%). This variant has been observed in individuals with Krabbe disease (PMID: 22704718; Invitae). This variant is also known as c.861-10A>G. ClinVar contains an entry for this variant (Variation ID: 92512). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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