ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4210C>T (p.Arg1404Trp)

gnomAD frequency: 0.00001  dbSNP: rs782370378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806437 SCV000946436 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 2022-08-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 651142). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782370378, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1431 of the PLEC protein (p.Arg1431Trp).
CeGaT Center for Human Genetics Tuebingen RCV001092156 SCV001248536 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001092156 SCV003816666 uncertain significance not provided 2021-03-14 criteria provided, single submitter clinical testing

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