ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) (rs1157872508)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821448 SCV000962204 pathogenic Lafora disease 2019-03-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NHLRC1 gene (p.Asp155*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 241 amino acids of the NHLRC1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual with progressive myoclonus epilepsy (Invitae). This variant disrupts the C-terminus of the NHLRC1 protein. Other variant(s) that disrupt this region (p.Cys160*, p.Gly158Argfs*17, p.Arg265*, p.Gly331Glufs*3) have been observed in individuals with NHLRC1-related conditions (PMID: 29899791, 12958597, 15781812). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.

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