ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.4388C>A (p.Ser1463Ter)

dbSNP: rs2147945457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052181 SCV002318715 likely pathogenic Spastic paraplegia, intellectual disability, nystagmus, and obesity 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region.. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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