ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.667-10_667-7del

dbSNP: rs376011228
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230315 SCV000543518 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000486155 SCV000572399 likely benign not specified 2016-12-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810946 SCV002048263 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing The CBS c.667-10_667-7delTTCT variant (rs1060500684), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 405377). This variant is found in the African population with an overall allele frequency of 0.20% (50/24926 alleles) in the Genome Aggregation Database. This is an intronic variant that deletes four weakly-to-moderately conserved nucleotides, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, RNA studies would be required to confirm an effect on splicing. Given the lack of clinical and functional data, the significance of the c.667-10_667-7delTTCT variant is uncertain at this time.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252180 SCV001427930 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Natera, Inc. RCV000473352 SCV001455977 likely benign Classic homocystinuria 2020-04-29 no assertion criteria provided clinical testing

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