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NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 22, 2020
Accession:
VCV001036304.1
Variation ID:
1036304
Description:
single nucleotide variant
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NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)

Allele ID
1026397
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.2
Genomic location
5: 139307500 (GRCh38) GRCh38 UCSC
5: 138643189 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.139307500C>T
NC_000005.9:g.138643189C>T
NG_012846.1:g.38398C>T
... more HGVS
Protein change
L29F
Other names
-
Canonical SPDI
NC_000005.10:139307499:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1754770320
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 Feb 22, 2020 RCV001339294.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MATR3 - - GRCh38
GRCh37
217 249

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Feb 22, 2020)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis 21
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001533027.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces leucine with phenylalanine at codon 29 of the MATR3 protein (p.Leu29Phe). The leucine 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.

Text-mined citations for rs1754770320...

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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