ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7248del (p.Phe2416fs) (rs730880024)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498058 SCV000589541 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing The c.7248delT variant in the DSP gene has been reported previously in the homozygous state in an individual with acantholytic epidermolysis bullosa (Hobbs et al., 2010). The c.7248delT variant causes a frameshift starting with codon Phenylalanine 2416, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Phe2416LeufsX14. This variant is predicted to cause loss of normal protein function through protein truncation. The c.7248delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.7248delT as a pathogenic variant.
OMIM RCV000157033 SCV000206761 pathogenic Epidermolysis bullosa, lethal acantholytic 2010-11-01 no assertion criteria provided literature only

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