ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.2109G>A (p.Thr703=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003322063 SCV004026106 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing PM5, PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV003741343 SCV004511749 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-12-16 criteria provided, single submitter clinical testing This sequence change affects codon 703 of the BICD2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BICD2 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BICD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2576002). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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