ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.61G>A (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 RCV001298472 SCV001487530 uncertain significance not provided 2022-10-20 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 (rs778756392, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with USB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002095). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt USB1 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001298472 SCV001714547 uncertain significance not provided 2020-03-20 criteria provided, single submitter clinical testing

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