ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.215A>T (p.Lys72Ile) (rs192232907)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617440 SCV000738498 benign Cardiovascular phenotype 2017-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000196407 SCV000249734 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing The K72I variant of uncertain significance in the CBS gene has been reported previously in one Chinese individual with severe homocystinuria who harbored a second variant in the CBS gene (Li et al., 2018). This variant has also been identified both independently of and in conjunction with additional cardiogenetic variants in several individuals referred for TAAD / Marfan syndrome genetic testing at GeneDx. However, thus far, segregation data is limited or absent for these individuals due to the lack of clinical information provided and/or insufficient participation by informative family members. The K72I variant is observed 139/18,848 (0.74%) alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016). The K72I 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Invitae RCV000547149 SCV000649830 likely benign Homocystinuria due to CBS deficiency 2017-02-17 criteria provided, single submitter clinical testing

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