ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) (rs587777885)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988189 SCV001137823 benign Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000988189 SCV001387769 uncertain significance Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2019-04-23 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 665 of the BICD2 protein (p.Val665Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with clinical features of motor neuropathy in a family (PMID: 25802885). ClinVar contains an entry for this variant (Variation ID: 155729). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
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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