ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3874G>A (p.Glu1292Lys)

gnomAD frequency: 0.00001  dbSNP: rs1044478234
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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 RCV001302708 SCV001491928 uncertain significance Acrocallosal syndrome 2023-07-17 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. 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. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1292 of the KIF7 protein (p.Glu1292Lys). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1005771).
Fulgent Genetics, Fulgent Genetics RCV005012744 SCV005633456 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-05-09 criteria provided, single submitter clinical testing

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