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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