ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.397G>A (p.Asp133Asn) (rs539326697)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198043 SCV000249680 uncertain significance not provided 2014-01-12 criteria provided, single submitter clinical testing p.Asp133Asn (GAC>AAC): c.397 G>A in exon 5 of the CBS gene (NM_000071.2). TheD133N variant in the CBS gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. D133N was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In addition, mutations in nearby residues (E131D, G139R) have been reported in association with homocystinuria, supporting the functional importance of this region of the protein.D133N is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. However the D133 residue is not well conserved across species and consequently, in silico analysis predicts D133N is benign to the protein structure/function.With the clinical and molecular information available at this time, we cannot definitively determine if D133N is a disease-causing mutation or a rare benign variant. This variant was found in TAAD
Ambry Genetics RCV000243532 SCV000318099 uncertain significance Cardiovascular phenotype 2012-12-04 criteria provided, single submitter clinical testing

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