ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.733G>A (p.Val245Ile)

gnomAD frequency: 0.00001  dbSNP: rs1212811357
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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 RCV001823576 SCV002073123 uncertain significance Short-limb skeletal dysplasia with severe combined immunodeficiency criteria provided, single submitter clinical testing The missense variant p.V245I in KIF7 (NM_198525.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.V245I variant is observed in 1/54,200 (0.0018%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.V245I missense variant is predicted to be tolerated by both SIFT or PolyPhen2. The nucleotide c.733 in KIF7 is not conserved according to a GERP++ and PhyloP analysis of 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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