This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 78 of the DTNA protein (p.Val78Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DTNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035846). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
ClinVar Genomic variation as it relates to human health
NM_001386795.1(DTNA):c.232G>A (p.Val78Met)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001386795.1(DTNA):c.232G>A (p.Val78Met)
Variation ID: 1035846 Accession: VCV001035846.6
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q12.1 18: 34794120 (GRCh38) [ NCBI UCSC ] 18: 32374084 (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 Mar 22, 2021 Feb 14, 2024 Jul 25, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001386795.1:c.232G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001373724.1:p.Val78Met missense NM_001128175.2:c.232G>A NP_001121647.1:p.Val78Met missense NM_001198938.2:c.232G>A NP_001185867.1:p.Val78Met missense NM_001198939.2:c.232G>A NP_001185868.1:p.Val78Met missense NM_001198940.2:c.232G>A NP_001185869.1:p.Val78Met missense NM_001198941.2:c.232G>A NP_001185870.1:p.Val78Met missense NM_001198945.2:c.232G>A NP_001185874.1:p.Val78Met missense NM_001386753.1:c.232G>A NP_001373682.1:p.Val78Met missense NM_001386754.1:c.232G>A NP_001373683.1:p.Val78Met missense NM_001386755.1:c.232G>A NP_001373684.1:p.Val78Met missense NM_001386756.1:c.232G>A NP_001373685.1:p.Val78Met missense NM_001386757.1:c.232G>A NP_001373686.1:p.Val78Met missense NM_001386758.1:c.232G>A NP_001373687.1:p.Val78Met missense NM_001386759.1:c.232G>A NP_001373688.1:p.Val78Met missense NM_001386760.1:c.232G>A NP_001373689.1:p.Val78Met missense NM_001386761.1:c.232G>A NP_001373690.1:p.Val78Met missense NM_001386762.1:c.232G>A NP_001373691.1:p.Val78Met missense NM_001386763.1:c.232G>A NP_001373692.1:p.Val78Met missense NM_001386764.1:c.232G>A NP_001373693.1:p.Val78Met missense NM_001386765.1:c.232G>A NP_001373694.1:p.Val78Met missense NM_001386766.1:c.232G>A NP_001373695.1:p.Val78Met missense NM_001386767.1:c.232G>A NP_001373696.1:p.Val78Met missense NM_001386768.1:c.232G>A NP_001373697.1:p.Val78Met missense NM_001386769.1:c.232G>A NP_001373698.1:p.Val78Met missense NM_001386770.1:c.232G>A NP_001373699.1:p.Val78Met missense NM_001386771.1:c.232G>A NP_001373700.1:p.Val78Met missense NM_001386772.1:c.232G>A NP_001373701.1:p.Val78Met missense NM_001386773.1:c.232G>A NP_001373702.1:p.Val78Met missense NM_001386774.1:c.232G>A NP_001373703.1:p.Val78Met missense NM_001386775.1:c.232G>A NP_001373704.1:p.Val78Met missense NM_001386776.1:c.232G>A NP_001373705.1:p.Val78Met missense NM_001386777.1:c.232G>A NP_001373706.1:p.Val78Met missense NM_001386788.1:c.232G>A NP_001373717.1:p.Val78Met missense NM_001390.5:c.232G>A NP_001381.2:p.Val78Met missense NM_001391.5:c.232G>A NP_001382.2:p.Val78Met missense NM_001392.5:c.232G>A NP_001383.2:p.Val78Met missense NM_032975.4:c.232G>A NP_116757.2:p.Val78Met missense NM_032978.7:c.232G>A NP_116760.2:p.Val78Met missense NM_032979.5:c.232G>A NP_116761.2:p.Val78Met missense NC_000018.10:g.34794120G>A NC_000018.9:g.32374084G>A NG_009201.1:g.305831G>A LRG_756:g.305831G>A LRG_756t1:c.232G>A LRG_756p1:p.Val78Met LRG_756t2:c.232G>A LRG_756p2:p.Val78Met LRG_756t3:c.232G>A LRG_756p3:p.Val78Met LRG_756t4:c.232G>A LRG_756p4:p.Val78Met - Protein change
- V78M
- Other names
- -
- Canonical SPDI
- NC_000018.10:34794119:G:A
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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
Help
The frequency of the allele represented by this VCV record.
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The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
- 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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
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
Help
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. |
|||
| DTNA | - | - |
GRCh38 GRCh37 |
615 | 657 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Jul 25, 2022 | RCV001338772.7 |
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
Help
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
Help
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
Help
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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|---|---|---|---|---|---|
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Uncertain significance
(Jul 25, 2022)
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criteria provided, single submitter
Method: clinical testing
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Left ventricular noncompaction 1
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001532466.4
First in ClinVar: Mar 22, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 78 of the DTNA protein (p.Val78Met). … (more)
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 78 of the DTNA protein (p.Val78Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DTNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035846). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. (less)
|
Comment:
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. |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 78 of the DTNA protein (p.Val78Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DTNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035846). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Citations for germline classification of this variant
Help| There 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 rs1175132407 ...
HelpThese 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 Sep 29, 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.