ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) (rs113994177)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481302 SCV000566100 pathogenic not provided 2015-04-08 criteria provided, single submitter clinical testing The c.2038_2039delTG variant is expected to result in either an abnormal, truncated proteinproduct or loss of protein from this allele through nonsense-mediated mRNA decay. The c.2038_2039delTGvariant has been reported previously in multiple individuals with Naxos disease, an autosomal recessivedisorder identified in Naxos, Greece, and characterized by ARVC, palmoplantar keratoderma, and woolly hair(McKoy G et al., 2000; Antoniades L et al.., 2006; Lazaros G et al., 2009). These studies show that allindividuals who are homozygous for the c.2038_2039delTG (reported as 2157del2 due to alternatenomenclature) are affected with Naxos disease and all individuals who are heterozygous are unaffected(McKoy et al., 2000; Antoniades et al., 2006). In summary, c.2038_2039delTG in the JUP gene is interpreted as a pathogenic variant.
OMIM RCV000014569 SCV000034823 pathogenic Naxos disease 2000-06-17 no assertion criteria provided literature only
GeneReviews RCV000014569 SCV000040898 pathologic Naxos disease 2008-07-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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