ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.838C>T (p.Arg280Cys)

gnomAD frequency: 0.00001  dbSNP: rs372997489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726344 SCV000617087 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing The R307C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R307C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, most reported pathogenic variants in the PLEC gene are loss of function and result from nonsense and frameshift variants.
Eurofins Ntd Llc (ga) RCV000726344 SCV000701358 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806682 SCV000946695 uncertain significance 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 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 307 of the PLEC protein (p.Arg307Cys). This variant is present in population databases (rs372997489, gnomAD 0.007%). This missense change has been observed in individual(s) with congenital myopathy (PMID: 30919572). ClinVar contains an entry for this variant (Variation ID: 449222). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000726344 SCV003811132 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000806682 SCV005681645 uncertain significance 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 2024-06-14 criteria provided, single submitter clinical testing

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