ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.247T>C (p.Phe83Leu)

dbSNP: rs770614646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002013873 SCV002299403 uncertain significance Acrocallosal syndrome 2023-09-12 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 phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 83 of the KIF7 protein (p.Phe83Leu). This variant is present in population databases (rs770614646, gnomAD 0.08%). 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: 1508281).
Ambry Genetics RCV003339891 SCV004067053 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.247T>C (p.F83L) alteration is located in exon 2 (coding exon 1) of the KIF7 gene. This alteration results from a T to C substitution at nucleotide position 247, causing the phenylalanine (F) at amino acid position 83 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017069 SCV005640387 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-06-15 criteria provided, single submitter clinical testing

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