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NM_003680.4(YARS1):c.322A>G (p.Ile108Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Oct 14, 2019
Accession:
VCV000942051.1
Variation ID:
942051
Description:
single nucleotide variant
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NM_003680.4(YARS1):c.322A>G (p.Ile108Val)

Allele ID
930470
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32810649 (GRCh38) GRCh38 UCSC
1: 33276250 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_273:g.12384A>G
LRG_273t1:c.322A>G LRG_273p1:p.Ile108Val
NM_003680.3:c.322A>G NP_003671.1:p.Ile108Val missense
... more HGVS
Protein change
I108V
Other names
-
Canonical SPDI
NC_000001.11:32810648:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 14, 2019 RCV001211958.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
YARS1 - - GRCh38
GRCh37
254 301

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 14, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001383526.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 108 of the YARS protein (p.Ile108Val). The isoleucine residue is highly conserved and there is a … (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.

Record last updated Oct 24, 2021