The Gly6Ala variant in DTNA has not been previously reported in any other famili es with cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clin ical significance of the Gly6Ala variant.
ClinVar Genomic variation as it relates to human health
NM_001386795.1(DTNA):c.17G>C (p.Gly6Ala)
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
-
NM_001386795.1(DTNA):c.17G>C (p.Gly6Ala)
Variation ID: 46421 Accession: VCV000046421.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q12.1 18: 34755993 (GRCh38) [ NCBI UCSC ] 18: 32335957 (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 Jan 31, 2015 Jan 31, 2015 May 22, 2014 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001386795.1:c.17G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001373724.1:p.Gly6Ala missense NM_001128175.2:c.17G>C NP_001121647.1:p.Gly6Ala missense NM_001198938.2:c.17G>C NP_001185867.1:p.Gly6Ala missense NM_001198939.2:c.17G>C NP_001185868.1:p.Gly6Ala missense NM_001198940.2:c.17G>C NP_001185869.1:p.Gly6Ala missense NM_001198941.2:c.17G>C NP_001185870.1:p.Gly6Ala missense NM_001198945.2:c.17G>C NP_001185874.1:p.Gly6Ala missense NM_001386753.1:c.17G>C NP_001373682.1:p.Gly6Ala missense NM_001386754.1:c.17G>C NP_001373683.1:p.Gly6Ala missense NM_001386755.1:c.17G>C NP_001373684.1:p.Gly6Ala missense NM_001386756.1:c.17G>C NP_001373685.1:p.Gly6Ala missense NM_001386757.1:c.17G>C NP_001373686.1:p.Gly6Ala missense NM_001386758.1:c.17G>C NP_001373687.1:p.Gly6Ala missense NM_001386759.1:c.17G>C NP_001373688.1:p.Gly6Ala missense NM_001386760.1:c.17G>C NP_001373689.1:p.Gly6Ala missense NM_001386761.1:c.17G>C NP_001373690.1:p.Gly6Ala missense NM_001386762.1:c.17G>C NP_001373691.1:p.Gly6Ala missense NM_001386763.1:c.17G>C NP_001373692.1:p.Gly6Ala missense NM_001386764.1:c.17G>C NP_001373693.1:p.Gly6Ala missense NM_001386765.1:c.17G>C NP_001373694.1:p.Gly6Ala missense NM_001386766.1:c.17G>C NP_001373695.1:p.Gly6Ala missense NM_001386767.1:c.17G>C NP_001373696.1:p.Gly6Ala missense NM_001386768.1:c.17G>C NP_001373697.1:p.Gly6Ala missense NM_001386769.1:c.17G>C NP_001373698.1:p.Gly6Ala missense NM_001386770.1:c.17G>C NP_001373699.1:p.Gly6Ala missense NM_001386771.1:c.17G>C NP_001373700.1:p.Gly6Ala missense NM_001386772.1:c.17G>C NP_001373701.1:p.Gly6Ala missense NM_001386773.1:c.17G>C NP_001373702.1:p.Gly6Ala missense NM_001386774.1:c.17G>C NP_001373703.1:p.Gly6Ala missense NM_001386775.1:c.17G>C NP_001373704.1:p.Gly6Ala missense NM_001386776.1:c.17G>C NP_001373705.1:p.Gly6Ala missense NM_001386777.1:c.17G>C NP_001373706.1:p.Gly6Ala missense NM_001386788.1:c.17G>C NP_001373717.1:p.Gly6Ala missense NM_001390.5:c.17G>C NP_001381.2:p.Gly6Ala missense NM_001391.5:c.17G>C NP_001382.2:p.Gly6Ala missense NM_001392.5:c.17G>C NP_001383.2:p.Gly6Ala missense NM_032975.4:c.17G>C NP_116757.2:p.Gly6Ala missense NM_032978.7:c.17G>C NP_116760.2:p.Gly6Ala missense NM_032979.5:c.17G>C NP_116761.2:p.Gly6Ala missense NC_000018.10:g.34755993G>C NC_000018.9:g.32335957G>C NG_009201.1:g.267704G>C LRG_756:g.267704G>C LRG_756t1:c.17G>C LRG_756p1:p.Gly6Ala LRG_756t2:c.17G>C LRG_756p2:p.Gly6Ala LRG_756t3:c.17G>C LRG_756p3:p.Gly6Ala LRG_756t4:c.17G>C LRG_756p4:p.Gly6Ala - Protein change
- G6A
- Other names
- -
- Canonical SPDI
- NC_000018.10:34755992:G: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
Help
The frequency of the allele represented by this VCV record.
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The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00000
- 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
|
May 22, 2014 | RCV000039678.5 |
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
(May 22, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000063367.5
First in ClinVar: May 03, 2013 Last updated: Jan 31, 2015 |
Comment:
The Gly6Ala variant in DTNA has not been previously reported in any other famili es with cardiomyopathy or in large population studies. Computational prediction tools … (more)
The Gly6Ala variant in DTNA has not been previously reported in any other famili es with cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clin ical significance of the Gly6Ala variant. (less)
Number of individuals with the variant: 2
|
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:
The Gly6Ala variant in DTNA has not been previously reported in any other famili es with cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clin ical significance of the Gly6Ala variant.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. | Pugh TJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 24503780 |
Text-mined citations for rs397517446 ...
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 Dec 24, 2022
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.