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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