Submissions for variant NM_020738.4(KIDINS220):c.3529-5G>T

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV003226151	SCV003922367	uncertain significance	Spastic paraplegia, intellectual disability, nystagmus, and obesity	2023-05-02	criteria provided, single submitter	curation	The heterozygous c.3529-5G>T variant in KIDINS220 was identified by our study in one individual with agenesis of the corpus callosum and global developmental delay. Trio exome analysis showed this variant to be de novo. The c.3529-5G>T variant in KIDINS220 has not been previously reported in individuals with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO). This variant was absent from large population studies. This variant is located in the 3' splice region. Computational tools predict a splicing impact, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the c.3529-5G>T variant is uncertain. ACMG/AMP Criteria applied: PS2_Supporting, PM2_Supporting, PP3 (Richards 2015).
GeneDx	RCV005052037	SCV005686265	uncertain significance	not provided	2024-07-25	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge