ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys)

gnomAD frequency: 0.00009  dbSNP: rs782194334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703221 SCV000832113 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 2023-10-04 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 3672 of the PLEC protein (p.Arg3672Cys). This variant is present in population databases (rs782194334, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 579841). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Athena Diagnostics RCV000712712 SCV000843234 uncertain significance not provided 2017-11-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000712712 SCV003811148 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165892 SCV003880895 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.11014C>T (p.R3672C) 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 11014, causing the arginine (R) at amino acid position 3672 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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