ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.304A>C (p.Lys102Gln) (rs34040148)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224394 SCV000883541 benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621680 SCV000738386 benign Cardiovascular phenotype 2015-08-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224394 SCV000281546 benign not provided 2015-05-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178036 SCV000230022 benign not specified 2015-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000178036 SCV000167573 benign not specified 2013-01-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000394063 SCV000436230 likely benign Homocystinuria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233317 SCV000283386 benign Homocystinuria due to CBS deficiency 2017-11-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000178036 SCV000268833 benign not specified 2015-07-16 criteria provided, single submitter clinical testing p.Lys102Gln in exon 4 of CBS: This variant is not expected to have clinical sign ificance because it has been identified in 4% (415/10368) of African chromosomes by the Exome Aggregation Consortium (ExAC,http://exac.broadinstitute.org; dbSNP rs34040148).
SIB Swiss Institute of Bioinformatics RCV000233317 SCV000803598 benign Homocystinuria due to CBS deficiency 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Homocystinuria due to cystathionine beta-synthase deficiency, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).

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