ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) (rs1555381439)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521361 SCV000617678 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing The c.1075_1084del10 variant has been published, using alternate nomenclature, in a patient with Krabbe disease who also harbored another pathogenic variant in the GALC gene (Wenger et al. 1997). The c.1075_1084del10 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1075_1084del10 variant causes a frameshift starting with codon Lysine 359, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Lys359AlafsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.

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