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NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 11, 2020)
Last evaluated:
Feb 28, 2020
Accession:
VCV000873110.16
Variation ID:
873110
Description:
single nucleotide variant
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NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)

Allele ID
861240
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 17110924 (GRCh38) GRCh38 UCSC
10: 17152923 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.17152923G>A
NC_000010.11:g.17110924G>A
NM_001081.4:c.1010C>T MANE Select NP_001072.2:p.Pro337Leu missense
... more HGVS
Protein change
P337L
Other names
-
Canonical SPDI
NC_000010.11:17110923:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 602997.0004
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 28, 2020 RCV001285020.1
Pathogenic 1 no assertion criteria provided May 18, 2020 RCV001095371.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CUBN - - GRCh38
GRCh37
907 929

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 28, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001471240.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The CUBN c.1010C>T; p.Pro337Leu variant (rs202153130) is reported in the literature in multiple individuals affected with a hereditary vitamin B12 deficiency syndrome (Hauck 2008, Tanner … (more)
Pathogenic
(May 18, 2020)
no assertion criteria provided
Method: literature only
IMERSLUND-GRASBECK SYNDROME 1
Allele origin: germline
OMIM
Accession: SCV001250979.15
Submitted: (May 18, 2020)
Evidence details
Publications
PubMed (1)

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
Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN. Hauck FH European journal of pediatrics 2008 PMID: 17668238

Record last updated Jan 30, 2021