Submissions for variant NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)

dbSNP: rs672601366

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
SIB Swiss Institute of Bioinformatics	RCV000149478	SCV001426711	likely pathogenic	Intellectual disability, autosomal dominant 9	2020-06-15	criteria provided, single submitter	curation	This variant is interpreted as likely pathogenic for NESCAV syndrome, 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); Assumed de novo, but no confirmation of paternity and maternity (PM6); 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).
CHU Sainte-Justine Research Center, University of Montreal	RCV000149478	SCV000196123	likely pathogenic	Intellectual disability, autosomal dominant 9	2014-01-01	no assertion criteria provided	clinical testing
OMIM	RCV000149478	SCV000245997	pathogenic	Intellectual disability, autosomal dominant 9	2014-09-29	no assertion criteria provided	literature only
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000149478	SCV000680110	pathogenic	Intellectual disability, autosomal dominant 9	2016-06-01	no assertion criteria provided	clinical testing