Submissions for variant NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)

gnomAD frequency: 0.00015  dbSNP: rs201765507

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723747	SCV000110692	uncertain significance	not provided	2016-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000723747	SCV000536515	uncertain significance	not provided	2023-08-15	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV001088568	SCV000650137	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	2023-04-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000723747	SCV001145050	likely benign	not provided	2019-06-12	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000723747	SCV003817427	uncertain significance	not provided	2023-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915053	SCV004730375	likely benign	PLEC-related condition	2024-02-16	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).