ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1080C>T (p.Ala360=) (rs1801181)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078107 SCV000109945 benign not specified 2014-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000078107 SCV000167569 benign not specified 2013-01-30 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078107 SCV000268832 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ala360Ala in exon 12 of CBS: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 35.9% (3087/8594) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (; dbSNP rs1801181).
PreventionGenetics,PreventionGenetics RCV000078107 SCV000301903 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244095 SCV000317681 benign Cardiovascular phenotype 2014-11-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000611179 SCV000436211 benign Classic homocystinuria 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282273 SCV000602915 benign none provided 2020-08-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000611179 SCV000743128 benign Classic homocystinuria 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000611179 SCV001729927 benign Classic homocystinuria 2020-11-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611179 SCV000734089 benign Classic homocystinuria no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000611179 SCV000745583 benign Classic homocystinuria 2015-09-23 no assertion criteria provided clinical testing
Natera, Inc. RCV000611179 SCV001461069 benign Classic homocystinuria 2020-09-16 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356690 SCV001551929 uncertain significance not provided no assertion criteria provided clinical testing multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 62.069% in ExAC) based on the frequency threshold of 1.432% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.10 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.A synonymous variant not located in a splice region.

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