ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) (rs201098477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200328 SCV000249733 uncertain significance not provided 2018-10-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CBS gene. The G471R variant has not been published as pathogenic in association with homocystinuria or been reported as benign to our knowledge. The G471R variant is observed in 5/11554 (0.043%) alleles from individuals of Latino background in the Exome Aggregation Consortium (ExAC) dataset, though no individuals were reported to be homozygous (Lek et al., 2016). The G471R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Fulgent Genetics,Fulgent Genetics RCV000764258 SCV000895266 uncertain significance Homocystinuria due to CBS deficiency 2018-10-31 criteria provided, single submitter clinical testing

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