ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.61G>C (p.Gly21Arg)

dbSNP: rs778756392
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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 RCV003088636 SCV003485781 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 21 of the USB1 protein (p.Gly21Arg). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with USB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004073279 SCV004977303 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The p.G21R variant (also known as c.61G>C), located in coding exon 1 of the USB1 gene, results from a G to C substitution at nucleotide position 61. The glycine at codon 21 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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