ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1221A>T (p.Lys407Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577182 SCV005061074 uncertain significance Focal segmental glomerulosclerosis 5 criteria provided, single submitter clinical testing The missense variant c.1258C>T(p.Arg420Cys) in CARD10 gene has been reported previously in homozygous state in two siblings of a consanguineous family (Yang DH, et al., 2020). The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. However, study on multiple affected individuals and functional impact of the variant is not available. The amino acid Arginine at position 420 is changed to a Cysteine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Arg420Cys in CARD10 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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