ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.628-1G>T (rs386833659)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049619 SCV000485573 likely pathogenic Ceroid lipofuscinosis neuronal 1 2016-01-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587410 SCV000696511 pathogenic Neuronal ceroid lipofuscinosis 2016-05-06 criteria provided, single submitter clinical testing Variant summary: The c.628-1G>T in a PPT1 gene is a splice-site variant that alters a conserved nucleotide. 5/5 in silico tools in Alamut predict this variant to disrupt a canonical acceptor sequence, however these predictions have yet to be confirmed by functional assay. The variant is absent from ExAC but has been reported in multiple affected patients presented with infantile neuronal ceroid lipofuscinoses. In addition, a reputable database/diagnostic center classified the variant of interest as Likely Pathogenic. Taken together, the variant was classified as pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049619 SCV000082026 probable-pathogenic Ceroid lipofuscinosis neuronal 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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