ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.612del (p.Phe204fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214119 SCV001385785 pathogenic Lafora disease 2019-05-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NHLRC1 gene (p.Phe204Leufs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 192 amino acids of the NHLRC1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Lafora disease (PMID: 16529633). This variant is also known as 907delT in the literature. This variant disrupts the C-terminus of the NHLRC1 protein. Other variant(s) that disrupt this region (p.Ser300Valfs*13) have been determined to be pathogenic (PMID: 16021330). 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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