ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)

dbSNP: rs587777885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988189 SCV001137823 benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988189 SCV001387769 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2022-09-04 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 BICD2 protein function. ClinVar contains an entry for this variant (Variation ID: 155729). This missense change has been observed in individual(s) with clinical features of motor neuropathy (PMID: 25802885). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs587777885, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 665 of the BICD2 protein (p.Val665Leu).
CeGaT Center for Human Genetics Tuebingen RCV000143798 SCV004704209 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing BICD2: BP4
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143798 SCV000188690 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Inherited Neuropathy Consortium RCV000789076 SCV000928425 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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