ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7607_7608insTGA (p.Arg2536_Gln2537insGlu)

gnomAD frequency: 0.00001  dbSNP: rs1178939932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944335 SCV002213926 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 2021-07-12 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. This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.7688_7689insTGA, results in the insertion of 1 amino acid(s) to the PLEC protein (p.Arg2563_Gln2564insGlu), but otherwise preserves the integrity of the reading frame.

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