ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.155del (p.Gly52fs) (rs1064793131)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481487 SCV000565021 likely pathogenic not provided 2017-01-12 criteria provided, single submitter clinical testing The c.155delG variant in the GALC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.155delG variant causes a frameshift starting with codon Glycine 52, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Gly52AlafsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.155delG variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant (Lek et al., 2016). We interpret c.155delG as a likely pathogenic variant.
Invitae RCV000984178 SCV001376697 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly52Alafs*20) in the GALC gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in an individual affected with Krabbe disease (PMID: 30777126). ClinVar contains an entry for this variant (Variation ID: 418220). 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.
Counsyl RCV000984178 SCV001132202 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2019-01-24 no assertion criteria provided clinical testing

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