Submissions for variant NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)

dbSNP: rs1365095601

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000674493	SCV000799839	uncertain significance	Classic homocystinuria	2018-05-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002233104	SCV000828268	uncertain significance	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	2018-06-12	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals with CBS-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the CBS mRNA. It is expected to extend the length of the CBS protein by 31 additional amino acid residues.
Ambry Genetics	RCV004601238	SCV005098228	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-06-05	criteria provided, single submitter	clinical testing	The c.1656A>C variant (also known as p.*552Cext*31), located in coding exon 15 of the CBS gene, results from an A to C substitution at nucleotide position 1656. This alteration disrupts the stop codon of the CBS gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 31 amino acids. The exact functional effect of the additional amino acids is unknown. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc.	RCV000674493	SCV002083752	uncertain significance	Classic homocystinuria	2021-10-19	no assertion criteria provided	clinical testing