ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.598_602del (p.Thr200fs)

dbSNP: rs1939127665
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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 RCV001338040 SCV001531670 uncertain significance Developmental and epileptic encephalopathy, 36 2020-11-16 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ALG13 cause disease. 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. This variant has not been reported in the literature in individuals with ALG13-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr200Valfs*5) in the ALG13 gene. It is expected to result in an absent or disrupted protein product.

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