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NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 24, 2019)
Last evaluated:
Nov 13, 2017
Accession:
VCV000633178.1
Variation ID:
633178
Description:
single nucleotide variant
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NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val)

Allele ID
621103
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 188993416 (GRCh38) GRCh38 UCSC
2: 189858142 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.189858142G>T
NC_000002.12:g.188993416G>T
NM_000090.3:c.1106G>T NP_000081.1:p.Gly369Val missense
... more HGVS
Protein change
G369V
Other names
-
Canonical SPDI
NC_000002.12:188993415:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1057521930
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 Nov 13, 2017 RCV000781311.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL3A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1855 1906

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 13, 2017)
criteria provided, single submitter
Method: clinical testing
Familial aortopathy
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919237.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: The COL3A1 c.1106G>T (p.Gly369Val) variant involves the alteration of a conserved nucleotide located in the Collagen triple helix repeat(IPR008160) (InterPro) affecting a critical … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1057521930...

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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 Jun 14, 2021