Submissions for variant NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)

gnomAD frequency: 0.00016  dbSNP: rs373952777

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000415816	SCV000493364	uncertain significance	not provided	2016-08-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000415816	SCV000533802	likely benign	not provided	2021-03-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000415816	SCV000843266	likely benign	not provided	2017-12-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088925	SCV001018734	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	2024-12-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000415816	SCV003817357	uncertain significance	not provided	2022-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004659020	SCV005150064	uncertain significance	Inborn genetic diseases	2024-06-22	criteria provided, single submitter	clinical testing	The c.5110G>A (p.G1704S) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 5110, causing the glycine (G) at amino acid position 1704 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.