ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.6del (p.Ser3fs)

dbSNP: rs1570476221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823029 SCV000963867 pathogenic Neuronal ceroid lipofuscinosis 1 2022-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3Argfs*34) in the PPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943, 21990111). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664850). This premature translational stop signal has been observed in individual(s) with variant late infantile neuronal ceroid lipofuscinoses (PMID: 11727201). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV000823029 SCV002810310 likely pathogenic Neuronal ceroid lipofuscinosis 1 2022-03-11 criteria provided, single submitter clinical testing

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