ClinVar Miner

Submissions for variant NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV001255228 SCV001428442 pathogenic Triglyceride storage disease with ichthyosis 2020-07-29 criteria provided, single submitter clinical testing A homozygous nonsense variation in exon 6 of the ABHD5 gene (chr3:g.43717707T>A; Depth: 175x) that results in a stop codon and premature truncation of the protein at codon 270 (p.Tyr270Ter; ENST00000644371.2) was detected. This variant has not been reported in the 1000 Genomes, gnomAD and our internal databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species.

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