Submissions for variant NM_000071.3(CBS):c.1224-5C>T

gnomAD frequency: 0.00003  dbSNP: rs370071493

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000604190	SCV000718817	likely benign	not specified	2017-04-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002232585	SCV001673779	likely benign	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	2023-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004601214	SCV005098232	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-04-29	criteria provided, single submitter	clinical testing	The c.1224-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 12 in the CBS gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.