ClinVar Miner

Submissions for variant NM_000153.3(GALC):c.955delT (p.Tyr319Metfs) (rs786204454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169089 SCV000220268 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2014-04-24 criteria provided, single submitter literature only
GeneDx RCV000255073 SCV000321694 pathogenic not provided 2018-11-30 criteria provided, single submitter clinical testing The c.955delT variant in the GALC gene has been reported previously, using alternativenomenclature, in patients with Krabbe disease (Wenger et al., 1997; Lissens et al. 2007). The c.955delT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. c.955delT causes a frameshift starting with codon Tyrosine 319, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Tyr319MetfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.955delT to be a pathogenic variant.

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