ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp)

dbSNP: rs1587668769
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805633 SCV000945596 likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2022-08-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 650473). This missense change has been observed in individual(s) with clinical features consistent with BICD2-related spinal muscular atrophy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 545 of the BICD2 protein (p.Asn545Asp).

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