ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.725T>C (p.Val242Ala)

gnomAD frequency: 0.00001  dbSNP: rs766841291
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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 RCV003739065 SCV004553762 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with USB1-related conditions. This variant is present in population databases (rs766841291, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 242 of the USB1 protein (p.Val242Ala). 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 RCV005301364 SCV005956309 uncertain significance Inborn genetic diseases 2025-02-26 criteria provided, single submitter clinical testing The c.725T>C (p.V242A) alteration is located in exon 7 (coding exon 7) of the USB1 gene. This alteration results from a T to C substitution at nucleotide position 725, causing the valine (V) at amino acid position 242 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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