ClinVar Miner

Submissions for variant NM_004321.8(KIF1A):c.3975C>G (p.Tyr1325Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001078154 SCV001426736 likely pathogenic Spastic paraplegia 30, autosomal recessive 2020-06-15 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for spastic paraplegia 30, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Predicted nullvariant in a gene where LOF is a known mechanism of disease (PVS1 downgraded to strong); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1).
OMIM RCV001078154 SCV001244205 pathogenic Spastic paraplegia 30, autosomal recessive 2020-04-16 no assertion criteria provided literature only

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