ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.361del (p.Asp121fs)

dbSNP: rs1303559181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bertuch Lab, Baylor College of Medicine RCV001523791 SCV001450737 pathogenic Dyskeratosis congenita, autosomal dominant 6 criteria provided, single submitter clinical testing This variant consists of deletion of a single nucleotide in exon 4, resulting in frameshift and production of a premature termination codon in exon 5. When heterozygous, this variant, which was studied in a father and son, produced no clinical phenotype. Telomere length by flow-FISH analysis in the two individuals revealed lymphocyte telomere lengths that were within normal range. When compound heterozygous with an in-frame deletion of amino acid E169, this variant resulted in extremely short telomeres and severe clinical phenotypes.

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