ClinVar Miner

Submissions for variant NM_006384.4(CIB1):c.338G>A (p.Arg113His)

gnomAD frequency: 0.00001  dbSNP: rs747497642
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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 RCV001954759 SCV002204955 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 153 of the CIB1 protein (p.Arg153His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs747497642, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CIB1-related conditions. 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: "Not Available"; Align-GVGD: "Class C25"). 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 RCV004044197 SCV003588256 uncertain significance not specified 2021-10-29 criteria provided, single submitter clinical testing The c.338G>A (p.R113H) alteration is located in exon 4 (coding exon 4) of the CIB1 gene. This alteration results from a G to A substitution at nucleotide position 338, causing the arginine (R) at amino acid position 113 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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