ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) (rs398123028)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509172 SCV000606905 not provided Spinal muscular atrophy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Inherited Neuropathy Consortium RCV000789078 SCV000928427 pathogenic Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only
Institute of Human Genetics,Cologne University RCV000049274 SCV000787773 pathogenic Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2018-04-25 no assertion criteria provided clinical testing
Invitae RCV000049274 SCV000773374 pathogenic Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 107 of the BICD2 protein (p.Ser107Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in numerous individuals and families affected with spinal muscular atrophy (SMA). In several families, this variant has been shown to segregate with disease (PMID: 23664116, 28251916, 23664120, 23664119, 25497877, 27784775). In addition, this variant, described as a 'hot spot mutation', has been reported to be de novo in individuals affected with SMA (PMID: 28251916, 23664119). ClinVar contains an entry for this variant (Variation ID: 55857). Multiple experimental studies have shown that this missense change leads to altered BICD2 protein localization and golgi fragmentation in patient muscle cells and in cultured cells transfected with the p.Ser107Leu protein construct (PMID: 23664116, 27784775). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000049274 SCV000077531 pathogenic Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2013-06-06 no assertion criteria provided literature only

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