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NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000284816.6
Variation ID:
284816
Description:
single nucleotide variant
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NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)

Allele ID
269053
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p13.2
Genomic location
2: 71481936 (GRCh38) GRCh38 UCSC
2: 71709066 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.71709066G>C
NC_000002.12:g.71481936G>C
NM_001130987.2:c.205G>C MANE Select NP_001124459.1:p.Val69Leu missense
... more HGVS
Protein change
V68L, V69L
Other names
-
Canonical SPDI
NC_000002.12:71481935:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Trans-Omics for Precision Medicine (TOPMed) 0.00170
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD) 0.00134
Links
ClinGen: CA1705253
dbSNP: rs114986640
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 5, 2017 RCV000284030.4
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000302392.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000340889.1
Uncertain significance 1 criteria provided, single submitter Aug 21, 2020 RCV001283516.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 6, 2020 RCV000544371.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DYSF - - GRCh38
GRCh37
2056 2071

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Limb-Girdle Muscular Dystrophy, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000431669.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Miyoshi Muscular Dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000431668.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Nov 21, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000527058.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Aug 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV000613189.2
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (1)
Likely benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Qualitative or quantitative defects of dysferlin
Allele origin: germline
Invitae
Accession: SCV000649621.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337601.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Qualitative or quantitative defects of dysferlin
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001297415.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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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Title Author Journal Year Link
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Nallamilli BRR Annals of clinical and translational neurology 2018 PMID: 30564623
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DYSF - - - -
http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/?chr=2&from=71709066&to=71709066 - - - -

Text-mined citations for rs114986640...

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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 May 23, 2021