ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.346-9T>G (rs376483549)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597936 SCV000701306 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509252 SCV000606971 not provided Limb-girdle muscular dystrophy, type 2Q no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000793988 SCV000933370 uncertain significance Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2018-12-24 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the PLEC gene. It does not directly change the encoded amino acid sequence of the PLEC protein. This variant is present in population databases (rs376483549, ExAC 0.002%). This variant has not been reported in the literature in individuals with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 440964). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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