ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1223+5G>A (rs372609349)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198579 SCV000249709 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CBS gene. The c.1223+5 G>A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 7/23,972 alleles (0.03%) from individuals of African ancestry in large population cohorts (Lek et al., 2016). The c.1223+5 G>A variant may impact the canonical splice donor site in intron 13, which could result in abnormal gene splicing. Nevertheless, this nucleotide substitution occurs at a position that is not conserved across species, and in the absence of functional mRNA studies, the physiological consequences of this variant cannot be precisely determined.

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