ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)

gnomAD frequency: 0.00026  dbSNP: rs201069314
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300593 SCV000345044 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087007 SCV000770391 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 2024-12-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000300593 SCV001475961 likely benign not provided 2020-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000300593 SCV001804170 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Ambry Genetics RCV004021085 SCV005006530 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.12556C>T (p.R4186C) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 12556, causing the arginine (R) at amino acid position 4186 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004542991 SCV004779253 likely benign PLEC-related disorder 2022-11-03 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).

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