Submissions for variant NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)

dbSNP: rs200949161

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727203	SCV000701364	uncertain significance	not provided	2017-03-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000727203	SCV000724474	likely benign	not provided	2020-01-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079937	SCV001021956	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	2025-01-08	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000727203	SCV003811054	uncertain significance	not provided	2021-07-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024702	SCV005005057	uncertain significance	Inborn genetic diseases	2023-10-28	criteria provided, single submitter	clinical testing	The c.5663C>T (p.A1888V) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 5663, causing the alanine (A) at amino acid position 1888 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004543313	SCV004770479	likely benign	PLEC-related disorder	2023-04-28	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).