ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg)

gnomAD frequency: 0.00003  dbSNP: rs755962512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521456 SCV000622025 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing The K213R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K213R variant is observed in 2/30,780 (0.01%) alleles from individuals of South Asian background (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Lysine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV000806547 SCV000946551 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-08-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000806547 SCV001366490 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2019-03-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Ambry Genetics RCV002358419 SCV002655425 uncertain significance Inborn genetic diseases 2022-06-29 criteria provided, single submitter clinical testing The p.K213R variant (also known as c.638A>G), located in coding exon 4 of the BICD2 gene, results from an A to G substitution at nucleotide position 638. The lysine at codon 213 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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