ClinVar Genomic variation as it relates to human health
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
Variation ID: 2973169 Accession: VCV002973169.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 5q31.2 5: 139325654 (GRCh38) [ NCBI UCSC ] 5: 138661343 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 29, 2024 Feb 28, 2024 Mar 18, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_018834.6:c.2363T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061322.2:p.Val788Ala missense NM_001194954.2:c.2363T>C NP_001181883.1:p.Val788Ala missense NM_001194955.2:c.2363T>C NP_001181884.1:p.Val788Ala missense NM_001194956.2:c.1499T>C NP_001181885.1:p.Val500Ala missense NM_001282278.2:c.1349T>C NP_001269207.1:p.Val450Ala missense NM_001400441.1:c.2507T>C NP_001387370.1:p.Val836Ala missense NM_001400442.1:c.2507T>C NP_001387371.1:p.Val836Ala missense NM_001400443.1:c.2507T>C NP_001387372.1:p.Val836Ala missense NM_001400444.1:c.2507T>C NP_001387373.1:p.Val836Ala missense NM_001400445.1:c.2507T>C NP_001387374.1:p.Val836Ala missense NM_001400447.1:c.2363T>C NP_001387376.1:p.Val788Ala missense NM_001400448.1:c.2363T>C NP_001387377.1:p.Val788Ala missense NM_001400450.1:c.2363T>C NP_001387379.1:p.Val788Ala missense NM_001400451.1:c.2363T>C NP_001387380.1:p.Val788Ala missense NM_001400452.1:c.2363T>C NP_001387381.1:p.Val788Ala missense NM_001400453.1:c.2363T>C NP_001387382.1:p.Val788Ala missense NM_001400454.1:c.2363T>C NP_001387383.1:p.Val788Ala missense NM_001400455.1:c.2363T>C NP_001387384.1:p.Val788Ala missense NM_001400456.1:c.2363T>C NP_001387385.1:p.Val788Ala missense NM_001400457.1:c.2363T>C NP_001387386.1:p.Val788Ala missense NM_001400458.1:c.2363T>C NP_001387387.1:p.Val788Ala missense NM_001400459.1:c.1502T>C NP_001387388.1:p.Val501Ala missense NM_001400460.1:c.1493T>C NP_001387389.1:p.Val498Ala missense NM_001400461.1:c.1463T>C NP_001387390.1:p.Val488Ala missense NM_001400462.1:c.1349T>C NP_001387391.1:p.Val450Ala missense NM_001400463.1:c.1349T>C NP_001387392.1:p.Val450Ala missense NM_001400464.1:c.1349T>C NP_001387393.1:p.Val450Ala missense NM_001400465.1:c.1349T>C NP_001387394.1:p.Val450Ala missense NM_001400466.1:c.1349T>C NP_001387395.1:p.Val450Ala missense NM_001400467.1:c.1349T>C NP_001387396.1:p.Val450Ala missense NM_199189.3:c.2363T>C NP_954659.1:p.Val788Ala missense NR_036535.1:n.2052T>C NC_000005.10:g.139325654T>C NC_000005.9:g.138661343T>C NG_012846.1:g.56552T>C - Protein change
- V788A, V836A, V498A, V488A, V501A, V450A, V500A
- Other names
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- Canonical SPDI
- NC_000005.10:139325653:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MATR3 | - | - |
GRCh38 GRCh37 |
415 | 535 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Mar 18, 2023 | RCV003830263.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Mar 18, 2023)
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criteria provided, single submitter
Method: clinical testing
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Amyotrophic lateral sclerosis type 21
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV004631247.1
First in ClinVar: Feb 28, 2024 Last updated: Feb 28, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 788 of the MATR3 protein (p.Val788Ala). (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.