ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1399dup (p.Thr467fs)

dbSNP: rs1057518390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413526 SCV000491976 pathogenic not provided 2016-12-13 criteria provided, single submitter clinical testing The c.1399dupA variant in the GALC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1399dupA variant causes a frameshift starting with codon Threonine 467, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Thr467AsnfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1399dupA variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1399dupA as a pathogenic variant.

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