ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.152del (p.Thr51fs)

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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 RCV004585160 SCV005073869 likely pathogenic Dyskeratosis congenita, autosomal dominant 6 criteria provided, single submitter clinical testing The observed frameshift variant c.152del (p.Thr51SerfsTer21) in the ACD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.0004% in the gnomAD Exomes. This variant causes a frameshift starting with codon Threonine 51, changes this amino acid to Serine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Thr51SerfsTer21. 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 (Kocak H, et al., 2014). For these reasons, this variant has been classified as Likely Pathogenic.

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