ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2354A>T (p.Glu785Val)

gnomAD frequency: 0.00001  dbSNP: rs759424882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522725 SCV000621081 uncertain significance not provided 2017-09-25 criteria provided, single submitter clinical testing The E785V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E785V variant is not observed in large population cohorts (Lek et al., 2016). The E785V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics, Fulgent Genetics RCV000764003 SCV000894954 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2018-10-31 criteria provided, single submitter clinical testing

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