ClinVar Miner

Submissions for variant NM_001008844.3(DSP):c.5826del (p.Lys1943fs) (rs397514039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498586 SCV000589542 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing The c.7623delG variant in the DSP gene has been reported previously in the homozygous state in association with dilated cardiomyopathy, wooly hair, and keratoderma (Norgett et al., 2000). The c.7623delG variant causes a frameshift starting with codon Lysine 2542, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Lys2542SerfsX19. This variant is predicted to cause loss of normal protein function through protein truncation. The c.7623delG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.7623delG as a pathogenic variant.
OMIM RCV000018331 SCV000038610 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma 2000-11-01 no assertion criteria provided literature only

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