ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2230C>T (p.Arg744Cys)

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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 RCV003013764 SCV003313515 uncertain significance Acrocallosal syndrome 2022-02-27 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 744 of the KIF7 protein (p.Arg744Cys). This variant is present in population databases (no rsID available, gnomAD 0.0008%). This variant has not been reported in the literature in individuals affected with KIF7-related conditions.
Ambry Genetics RCV004068562 SCV004892827 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.2230C>T (p.R744C) alteration is located in exon 11 (coding exon 10) of the KIF7 gene. This alteration results from a C to T substitution at nucleotide position 2230, causing the arginine (R) at amino acid position 744 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010871 SCV005642942 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-02-09 criteria provided, single submitter clinical testing

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