ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.235C>T (p.Leu79Phe)

gnomAD frequency: 0.00003  dbSNP: rs1388988537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523915 SCV000621537 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing The L79F variant in the KIF7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L79F variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The L79F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L79F as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858035 SCV002140782 uncertain significance Acrocallosal syndrome 2021-03-09 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 452709). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 79 of the KIF7 protein (p.Leu79Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.
Ambry Genetics RCV003278872 SCV003973016 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.235C>T (p.L79F) alteration is located in exon 2 (coding exon 1) of the KIF7 gene. This alteration results from a C to T substitution at nucleotide position 235, causing the leucine (L) at amino acid position 79 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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