ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2420C>T (p.Thr807Met)

gnomAD frequency: 0.00010  dbSNP: rs757175418
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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) RCV000280850 SCV000334958 uncertain significance not provided 2015-09-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764002 SCV000894953 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001855115 SCV002225045 uncertain significance Acrocallosal syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 807 of the KIF7 protein (p.Thr807Met). This variant is present in population databases (rs757175418, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 283078). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIF7 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.

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