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NM_170707.4(LMNA):c.1698+83G>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
10 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000875382.1
Variation ID:
875382
Description:
single nucleotide variant
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NM_170707.4(LMNA):c.1698+83G>A

Allele ID
862423
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 156137826 (GRCh38) GRCh38 UCSC
1: 156107617 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156107617G>A
NC_000001.11:g.156137826G>A
NG_008692.2:g.60254G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:156137825:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099170.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099171.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099173.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099172.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099174.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001101161.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001101163.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001101165.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001101162.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001101164.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LMNA Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1320 1343

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Lethal tight skin contracture syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255600.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hutchinson-Gilford syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255601.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Mandibuloacral dysplasia with type A lipodystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255602.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255603.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Familial partial lipodystrophy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255604.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257751.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 2B1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257752.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257753.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy, LMNA-related
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257754.1
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Emery-Dreifuss muscular dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257755.1
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021