ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.533G>A (p.Gly178Glu)

gnomAD frequency: 0.00004  dbSNP: rs374426055
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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 RCV002994083 SCV003297946 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 178 of the USB1 protein (p.Gly178Glu). This variant is present in population databases (rs374426055, gnomAD 0.004%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 RCV004681590 SCV005181295 uncertain significance Inborn genetic diseases 2024-11-18 criteria provided, single submitter clinical testing The p.G178E variant (also known as c.533G>A), located in coding exon 5 of the USB1 gene, results from a G to A substitution at nucleotide position 533. The glycine at codon 178 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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