ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.877AAC[1] (p.Asn294del)

dbSNP: rs777900476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143782 SCV003829854 uncertain significance not provided 2019-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003581892 SCV004274193 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-05-20 criteria provided, single submitter clinical testing This variant, c.880_882del, results in the deletion of 1 amino acid(s) of the BICD2 protein (p.Asn294del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777900476, gnomAD 0.006%). 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: 2439513). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV003143782 SCV005685567 uncertain significance not provided 2024-07-27 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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