ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.2T>C (p.Met1Thr) (rs796052927)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188725 SCV000242349 pathogenic not provided 2013-04-25 criteria provided, single submitter clinical testing p.Met1Thr (ATG>ACG): c.2 T>C in exon 1 of the PPT1 gene (NM_000310.3). The c.2 T>C mutation alters the initiator Methionine codon, and the resultant protein would be best described as ?p.Met1?? to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine initiator codon. Although the c.2 T>C mutation in the PPT1 gene has not been previously published as a mutation to our knowledge, it is predicted to alter the normal protein and is therefore considered a disease-causing mutation. Moreover, another mutation that also affects the Methionine initiator codon, c.3 G>A, has been published in association with neuronal ceroid lipofuscinosis (Das et al., 1998). The variant is found in EPILEPSY panel(s).
Counsyl RCV000410251 SCV000486588 likely pathogenic Ceroid lipofuscinosis neuronal 1 2016-06-29 criteria provided, single submitter clinical testing

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