ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.1048C>G (p.Arg350Gly) (rs387907259)

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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 RCV000030681 SCV001426715 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 recessive. 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); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1 strong); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2).
OMIM RCV000030681 SCV000053342 pathogenic Spastic paraplegia 30, autosomal recessive 2014-09-29 no assertion criteria provided literature only

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