ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.829_832del (p.Val277fs) (rs1595816474)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989352 SCV001139643 likely pathogenic Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989352 SCV001490618 uncertain significance Neuronal ceroid lipofuscinosis 2020-03-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLN6 gene (p.Val277Profs*72). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acids of the CLN6 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 12673792, 12815591). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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