ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.133C>T (p.Arg45Trp) (rs201372812)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198945 SCV000249718 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CBS gene. Although the R45W variant has not been published as pathogenic or been reported as benign to our knowledge, it has been classified as a likely benign variant by another clinical laboratory in ClinVar (SCV000555953.2; Landrum et al., 2016). Additionally, this variant is observed in 121/30,780 (0.4%) alleles from individuals of South Asian ancestry, and in the homozygous state in one other individual in large population cohorts (Lek et al., 2016). Nevertheless, the R45W 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. Moreover, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Invitae RCV000475469 SCV000555953 likely benign Homocystinuria due to CBS deficiency 2016-11-08 criteria provided, single submitter clinical testing

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