Submissions for variant NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)

gnomAD frequency: 0.00012  dbSNP: rs376494828

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000300309	SCV000334002	uncertain significance	not provided	2016-09-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088726	SCV001016525	likely benign	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	2024-11-03	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000300309	SCV002540978	uncertain significance	not provided	2021-04-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000300309	SCV003816754	uncertain significance	not provided	2022-12-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004021109	SCV005006571	uncertain significance	Inborn genetic diseases	2022-04-06	criteria provided, single submitter	clinical testing	The c.3449C>T (p.P1150L) alteration is located in exon 27 (coding exon 26) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 3449, causing the proline (P) at amino acid position 1150 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004737401	SCV005348079	likely benign	PLEC-related disorder	2024-04-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).