ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1768+1G>A (rs771427957)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000423322 SCV000226114 pathogenic not provided 2014-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000423322 SCV000521109 pathogenic not provided 2016-11-14 criteria provided, single submitter clinical testing The c.1768+1 G>A splice site variant in the PYGM gene has been previously reported in association with McArdle disease (Tsujino et al., 1994; Rubio et al., 2007). This pathogenic variant destroys the canonical splice donor site in intron 14, and results in abnormal gene splicing (Tsujino et al., 1994). The c.1768+1 G>A 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).
Ambry Genetics RCV000624349 SCV000740890 pathogenic Inborn genetic diseases 2015-05-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Fulgent Genetics,Fulgent Genetics RCV000763265 SCV000893904 pathogenic Glycogen storage disease, type V 2018-10-31 criteria provided, single submitter clinical testing

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