ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2935G>A (p.Glu979Lys)

gnomAD frequency: 0.00001  dbSNP: rs558313041
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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 RCV002013791 SCV002307426 uncertain significance Acrocallosal syndrome 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 979 of the KIF7 protein (p.Glu979Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KIF7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004982845 SCV005611573 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.2935G>A (p.E979K) alteration is located in exon 15 (coding exon 14) of the KIF7 gene. This alteration results from a G to A substitution at nucleotide position 2935, causing the glutamic acid (E) at amino acid position 979 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008409 SCV005642888 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-01-16 criteria provided, single submitter clinical testing

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