ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.380+5G>A

dbSNP: rs1564855725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. RCV000735435 SCV000854643 pathogenic Neuronal ceroid lipofuscinosis 2 criteria provided, single submitter clinical testing Found a homozygous mutation g.3090G>C (IVS4+5G>A) in the CLN2 gene. The IVS4+5 position was completely replaced with the mutation, with no normal DNA. The IVS4+5G>A mutation is not in the CLN2 mutation database (URL: http://www.ucl.ac.uk/ncl/cln2.shtml). However, it is very likely that this mutation is the cause of disease due to abnormal splicing as it is predicted to destroy the splice donor site by the splicing prediction program at URL http://www.fruitfly.org/seq_tools/splice.html.
Mendelics RCV000988484 SCV001138226 likely pathogenic Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Suma Genomics RCV000735435 SCV003762226 likely pathogenic Neuronal ceroid lipofuscinosis 2 criteria provided, single submitter clinical testing

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