ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)

dbSNP: rs1131691331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494100 SCV000581886 likely pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 78 amino acids are replaced with 32 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 14722920, 9931343)
Fulgent Genetics, Fulgent Genetics RCV002481561 SCV002781270 likely pathogenic Lafora disease 2022-03-30 criteria provided, single submitter clinical testing

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