ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.175C>T (p.Pro59Ser)

gnomAD frequency: 0.00004  dbSNP: rs376496085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241156 SCV001395285 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402692 SCV002711719 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-06-11 criteria provided, single submitter clinical testing The p.P59S variant (also known as c.175C>T), located in coding exon 1 of the CBS gene, results from a C to T substitution at nucleotide position 175. The proline at codon 59 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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