ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2456A>C (p.Lys819Thr)

dbSNP: rs374111371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594372 SCV000704960 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854042 SCV002269205 uncertain significance Acrocallosal syndrome 2021-11-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 499469). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is present in population databases (rs374111371, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 819 of the KIF7 protein (p.Lys819Thr).
Fulgent Genetics, Fulgent Genetics RCV005010574 SCV005642927 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2023-12-27 criteria provided, single submitter clinical testing

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