ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.1065A>C (p.Leu355Phe)

gnomAD frequency: 0.00026  dbSNP: rs142798632
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959899 SCV002210213 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 355 of the UBR1 protein (p.Leu355Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs142798632, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with UBR1-related conditions. 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 expected to disrupt UBR1 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.

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