Submissions for variant NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])

dbSNP: rs786205252

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001383874	SCV001583188	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	2020-08-20	criteria provided, single submitter	clinical testing	This variant, c.2677_2685del, results in the deletion of 3 amino acid(s) of the PLEC protein (p.Gln893_Ala895del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with autosomal recessive PLEC-related conditions (PMID: 8894687, 15810881, 21674528, Invitae). It has also been observed to segregate with disease in related individuals.
Revvity Omics, Revvity	RCV000274705	SCV003809910	likely pathogenic	not provided	2023-01-20	criteria provided, single submitter	clinical testing
OMIM	RCV000008748	SCV000028957	pathogenic	Epidermolysis bullosa simplex 5B, with muscular dystrophy	1996-10-01	no assertion criteria provided	literature only
Eurofins Ntd Llc (ga)	RCV000274705	SCV000332055	uncertain significance	not provided	2015-07-06	flagged submission	clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV002247277	SCV002520329	likely pathogenic	Epidermolysis bullosa simplex with nail dystrophy		no assertion criteria provided	clinical testing