ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.733A>G (p.Met245Val)

dbSNP: rs1403095180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001312558 SCV001503017 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1013897). This variant has not been reported in the literature in individuals affected with KIF11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 245 of the KIF11 protein (p.Met245Val).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796601 SCV005418648 uncertain significance Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability criteria provided, single submitter clinical testing PM2_Supporting+PS2_Moderate+PP2

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