Submissions for variant NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln)

gnomAD frequency: 0.00007  dbSNP: rs534045685

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176531	SCV000228203	benign	not specified	2015-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001697162	SCV000531972	likely benign	not provided	2018-07-30	criteria provided, single submitter	clinical testing
Invitae	RCV000648652	SCV000770472	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	2024-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003165369	SCV003869167	uncertain significance	Inborn genetic diseases	2023-03-06	criteria provided, single submitter	clinical testing	The c.3059G>A (p.R1020Q) alteration is located in exon 25 (coding exon 24) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 3059, causing the arginine (R) at amino acid position 1020 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003937594	SCV004747540	likely benign	PLEC-related condition	2021-01-11	criteria provided, single submitter	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).