ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.704A>T (p.Asp235Val)

gnomAD frequency: 0.00009  dbSNP: rs1018834431
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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 RCV001896246 SCV002160197 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1392481). This variant has not been reported in the literature in individuals affected with USB1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 235 of the USB1 protein (p.Asp235Val).
Ambry Genetics RCV004970423 SCV005530775 uncertain significance Inborn genetic diseases 2025-01-19 criteria provided, single submitter clinical testing The c.704A>T (p.D235V) alteration is located in exon 7 (coding exon 7) of the USB1 gene. This alteration results from a A to T substitution at nucleotide position 704, causing the aspartic acid (D) at amino acid position 235 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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