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 2024-10-29 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs587777885, gnomAD 0.002%). 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. ClinVar contains an entry for this variant (Variation ID: 155729). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is not expected to disrupt BICD2 function with a negative predictive value of 95%. 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.
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 likely benign not provided no assertion criteria provided not provided Converted during submission from probable-non-pathogenic to Likely benign.
Inherited Neuropathy Consortium RCV000789076 SCV000928425 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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