Submissions for variant NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)

gnomAD frequency: 0.00016  dbSNP: rs377610697

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725484	SCV000337237	uncertain significance	not provided	2016-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000725484	SCV000522434	likely benign	not provided	2019-04-18	criteria provided, single submitter	clinical testing
Invitae	RCV001078905	SCV001015115	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	2023-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003243040	SCV003940177	uncertain significance	Inborn genetic diseases	2023-06-01	criteria provided, single submitter	clinical testing	The c.9773G>A (p.R3258H) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 9773, causing the arginine (R) at amino acid position 3258 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000725484	SCV004163461	uncertain significance	not provided	2023-10-01	criteria provided, single submitter	clinical testing	PLEC: PM2, BP4
PreventionGenetics, part of Exact Sciences	RCV003967738	SCV004777921	likely benign	PLEC-related condition	2023-10-11	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).