ClinVar Miner

Submissions for variant NC_000008.10:g.(?_145008783)_(145018851_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815262 SCV000955711 likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2018-09-06 criteria provided, single submitter clinical testing In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in PLEC are known to be pathogenic (PMID: 23289980). This variant is a gross duplication of the genomic region encompassing exons 3-11 of the PLEC gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product.

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