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NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2019)
Last evaluated:
May 14, 2019
Accession:
VCV000419978.3
Variation ID:
419978
Description:
single nucleotide variant
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NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)

Allele ID
410545
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15180217 (GRCh38) GRCh38 UCSC
19: 15291028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.15180217C>T
NC_000019.9:g.15291028C>T
NG_009819.1:g.25765G>A
NM_000435.3:c.3182G>A MANE Select NP_000426.2:p.Cys1061Tyr missense
Protein change
C1061Y
Other names
-
Canonical SPDI
NC_000019.10:15180216:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16620807
dbSNP: rs1064794216
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 2 criteria provided, multiple submitters, no conflicts May 14, 2019 RCV000485488.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NOTCH3 - - GRCh38
GRCh37
836 855

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 22, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000568237.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The C1061Y variant in the NOTCH3 gene has been reported previously in association with CADASIL (Zhang et al., 2012). The C1061Y variant is not observed … (more)
Pathogenic
(May 14, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614278.3
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The variant disrupts a cysteine residue in an EGF-like repeat domain, which are important for the structure of this protein. Therefore it is expected to … (more)

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
Von Willebrand Factor permeates small vessels in CADASIL and inhibits smooth muscle gene expression. Zhang X Translational stroke research 2012 PMID: 22639698

Text-mined citations for rs1064794216...

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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 Nov 27, 2021