ClinVar Miner

Submissions for variant NM_016006.6(ABHD5):c.683dup (p.Leu228fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004585163 SCV005073873 likely pathogenic Triglyceride storage disease with ichthyosis criteria provided, single submitter clinical testing The observed frameshift variant c.683dup (p.Leu228PhefsTer4) in ABHD5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu228PhefsTer4 variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Leucine 228, changes this amino acid to Phenylalanine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Leu228PhefsTer4. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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