ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067308 SCV001232362 pathogenic Lafora disease 2020-01-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NHLRC1 gene (p.Ser364*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acids of the NHLRC1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with progressive myoclonic epilepsy (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the C-terminus of the NHLRC1 protein. Other variant(s) that disrupt this region (Val367Trpfs*21) have been determined to be pathogenic (PMID: 12958597). This variant is also known as p.V367fs20 in the literature. This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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