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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SUN1-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 leucine, which is neutral and non-polar, at codon 81 of the SUN1 protein (p.Val81Leu).
ClinVar Genomic variation as it relates to human health
NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)
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_001130965.3(SUN1):c.241G>C (p.Val81Leu)
Variation ID: 2916738 Accession: VCV002916738.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.3 7: 838961 (GRCh38) [ NCBI UCSC ] 7: 878598 (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 20, 2024 Feb 20, 2024 Nov 7, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001130965.3:c.241G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001124437.1:p.Val81Leu missense NM_001171944.2:c.241G>C NP_001165415.1:p.Val81Leu missense NM_001171945.2:c.304G>C NP_001165416.1:p.Val102Leu missense NM_001171946.2:c.241G>C NP_001165417.1:p.Val81Leu missense NM_001367633.1:c.241G>C NP_001354562.1:p.Val81Leu missense NM_001367634.1:c.241G>C NP_001354563.1:p.Val81Leu missense NM_001367635.1:c.-217G>C 5 prime UTR NM_001367636.1:c.91G>C NP_001354565.1:p.Val31Leu missense NM_001367637.1:c.91G>C NP_001354566.1:p.Val31Leu missense NM_001367638.1:c.241G>C NP_001354567.1:p.Val81Leu missense NM_001367639.1:c.-301-2985G>C intron variant NM_001367640.1:c.241G>C NP_001354569.1:p.Val81Leu missense NM_001367641.1:c.241G>C NP_001354570.1:p.Val81Leu missense NM_001367642.1:c.241G>C NP_001354571.1:p.Val81Leu missense NM_001367643.1:c.241G>C NP_001354572.1:p.Val81Leu missense NM_001367644.1:c.91G>C NP_001354573.1:p.Val31Leu missense NM_001367645.1:c.91G>C NP_001354574.1:p.Val31Leu missense NM_001367646.1:c.91G>C NP_001354575.1:p.Val31Leu missense NM_001367647.1:c.91G>C NP_001354576.1:p.Val31Leu missense NM_001367648.1:c.91G>C NP_001354577.1:p.Val31Leu missense NM_001367649.1:c.91G>C NP_001354578.1:p.Val31Leu missense NM_001367651.1:c.460G>C NP_001354580.1:p.Val154Leu missense NM_001367653.1:c.241G>C NP_001354582.1:p.Val81Leu missense NM_001367655.1:c.91G>C NP_001354584.1:p.Val31Leu missense NM_001367658.1:c.-521G>C 5 prime UTR NM_001367660.1:c.91G>C NP_001354589.1:p.Val31Leu missense NM_001367662.1:c.91G>C NP_001354591.1:p.Val31Leu missense NM_001367664.1:c.241G>C NP_001354593.1:p.Val81Leu missense NM_001367665.1:c.241G>C NP_001354594.1:p.Val81Leu missense NM_001367666.1:c.91G>C NP_001354595.1:p.Val31Leu missense NM_001367667.1:c.91G>C NP_001354596.1:p.Val31Leu missense NM_001367668.1:c.91G>C NP_001354597.1:p.Val31Leu missense NM_001367669.1:c.241G>C NP_001354598.1:p.Val81Leu missense NM_001367670.1:c.91G>C NP_001354599.1:p.Val31Leu missense NM_001367671.1:c.91G>C NP_001354600.1:p.Val31Leu missense NM_001367672.1:c.241G>C NP_001354601.1:p.Val81Leu missense NM_001367673.1:c.91G>C NP_001354602.1:p.Val31Leu missense NM_001367674.1:c.241G>C NP_001354603.1:p.Val81Leu missense NM_001367675.1:c.241G>C NP_001354604.1:p.Val81Leu missense NM_001367676.1:c.241G>C NP_001354605.1:p.Val81Leu missense NM_001367677.1:c.241G>C NP_001354606.1:p.Val81Leu missense NM_001367678.1:c.241G>C NP_001354607.1:p.Val81Leu missense NM_001367679.1:c.91G>C NP_001354608.1:p.Val31Leu missense NM_001367680.1:c.91G>C NP_001354609.1:p.Val31Leu missense NM_001367681.1:c.91G>C NP_001354610.1:p.Val31Leu missense NM_001367682.1:c.241G>C NP_001354611.1:p.Val81Leu missense NM_001367683.1:c.241G>C NP_001354612.1:p.Val81Leu missense NM_001367684.1:c.91G>C NP_001354613.1:p.Val31Leu missense NM_001367685.1:c.241G>C NP_001354614.1:p.Val81Leu missense NM_001367686.1:c.91G>C NP_001354615.1:p.Val31Leu missense NM_001367687.1:c.241G>C NP_001354616.1:p.Val81Leu missense NM_001367688.1:c.241G>C NP_001354617.1:p.Val81Leu missense NM_001367689.1:c.91G>C NP_001354618.1:p.Val31Leu missense NM_001367690.1:c.241G>C NP_001354619.1:p.Val81Leu missense NM_001367691.1:c.91G>C NP_001354620.1:p.Val31Leu missense NM_001367692.1:c.241G>C NP_001354621.1:p.Val81Leu missense NM_001367693.1:c.241G>C NP_001354622.1:p.Val81Leu missense NM_001367694.1:c.241G>C NP_001354623.1:p.Val81Leu missense NM_001367695.1:c.78-2985G>C intron variant NM_001367696.1:c.241G>C NP_001354625.1:p.Val81Leu missense NM_001367697.1:c.241G>C NP_001354626.1:p.Val81Leu missense NM_001367698.1:c.241G>C NP_001354627.1:p.Val81Leu missense NM_001367699.1:c.241G>C NP_001354628.1:p.Val81Leu missense NM_001367700.1:c.241G>C NP_001354629.1:p.Val81Leu missense NM_001367701.1:c.91G>C NP_001354630.1:p.Val31Leu missense NM_001367702.1:c.241G>C NP_001354631.1:p.Val81Leu missense NM_001367703.1:c.241G>C NP_001354632.1:p.Val81Leu missense NM_001367704.1:c.241G>C NP_001354633.1:p.Val81Leu missense NM_001367705.1:c.241G>C NP_001354634.1:p.Val81Leu missense NM_001367706.1:c.91G>C NP_001354635.1:p.Val31Leu missense NM_001367707.1:c.91G>C NP_001354636.1:p.Val31Leu missense NM_025154.6:c.91G>C NP_079430.3:p.Val31Leu missense NR_160281.1:n.292G>C non-coding transcript variant NR_160282.1:n.292G>C non-coding transcript variant NR_160283.1:n.292G>C non-coding transcript variant NC_000007.14:g.838961G>C NC_000007.13:g.878598G>C - Protein change
- V31L, V102L, V154L, V81L
- Other names
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- Canonical SPDI
- NC_000007.14:838960: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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- 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. |
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| SUN1 | - | - |
GRCh38 GRCh37 |
537 | 610 | |
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
|
Nov 7, 2022 | RCV003654880.2 |
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
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
(Nov 07, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Emery-Dreifuss muscular dystrophy
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004552329.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SUN1-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 leucine, which is neutral and non-polar, at codon 81 of the SUN1 protein (p.Val81Leu). (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:
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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SUN1-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 leucine, which is neutral and non-polar, at codon 81 of the SUN1 protein (p.Val81Leu).
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 this variant ...
HelpRecord last updated Sep 30, 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.