ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.173del (p.Ile58fs)

dbSNP: rs1064795927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482009 SCV000572189 likely pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing The c.173delT variant in the GALC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Isoleucine 58, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Ile58ThrfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.173delT variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The c.173delT variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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