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NM_000071.2(CBS):c.434C>T (p.Pro145Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 29, 2019
Accession:
VCV000000118.6
Variation ID:
118
Description:
single nucleotide variant
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NM_000071.2(CBS):c.434C>T (p.Pro145Leu)

Allele ID
15157
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 43066260 (GRCh38) GRCh38 UCSC
21: 44486370 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P35520:p.Pro145Leu
LRG_777t1:c.434C>T LRG_777p1:p.Pro145Leu
LRG_777:g.14671C>T
... more HGVS
Protein change
P145L, P40L
Other names
-
Canonical SPDI
NC_000021.9:43066259:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA113876
UniProtKB: P35520#VAR_002178
OMIM: 613381.0002
dbSNP: rs121964963
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Jun 29, 2019 RCV000625555.5
Likely pathogenic 1 criteria provided, single submitter - RCV001250193.1
Pathogenic 1 no assertion criteria provided Jun 1, 1993 RCV000000139.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CBS - - GRCh38
GRCh37
698 778

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 27, 2019)
criteria provided, single submitter
Method: clinical testing
Homocystinuria due to CBS deficiency
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000930439.1
Submitted: (Apr 29, 2019)
Evidence details
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Homocystinuria
Allele origin: germline
Centogene AG - the Rare Disease Company
Accession: SCV001424384.1
Submitted: (Jul 14, 2020)
Evidence details
Pathogenic
(Jun 29, 2019)
criteria provided, single submitter
Method: clinical testing
Classic homocystinuria
Allele origin: germline
Invitae
Accession: SCV001393783.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces proline with leucine at codon 145 of the CBS protein (p.Pro145Leu). The proline residue is highly conserved and there is a … (more)
Pathogenic
(Jun 01, 1993)
no assertion criteria provided
Method: literature only
HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
Allele origin: germline
OMIM
Accession: SCV000020282.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 18, 2017)
no assertion criteria provided
Method: clinical testing
Classic homocystinuria
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV000746051.1
Submitted: (Dec 20, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. Alcaide P Clinica chimica acta; international journal of clinical chemistry 2015 PMID: 25218699
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. Karaca M Gene 2014 PMID: 24211323
Surrogate genetics and metabolic profiling for characterization of human disease alleles. Mayfield JA Genetics 2012 PMID: 22267502
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Urreizti R Journal of human genetics 2006 PMID: 16479318
Molecular defect in a patient with pyridoxine-responsive homocystinuria. Kozich V Human molecular genetics 1993 PMID: 8353501

Text-mined citations for rs121964963...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021