ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) (rs1564854760)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000758017 SCV000886504 uncertain significance Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 2018-11-29 criteria provided, single submitter clinical testing The observed variant NM_000391.4:c.1080C>A/p.Asp360Glu is a homozygous missense variation in exon 9 of the TPP1 gene. It has not been reported in the 1000 Genomes and ExAC databases. The in silico predictions of this variant are probably damaging by PolyPhen-2 and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species.

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