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NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Feb 28, 2017
Accession:
VCV000550890.1
Variation ID:
550890
Description:
1bp duplication
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NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)

Allele ID
548599
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23882017-23882018 (GRCh38) GRCh38 UCSC
18: 21461981-21461982 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.23882020dup
NC_000018.9:g.21461984dup
NG_007853.2:g.197423dup
... more HGVS
Protein change
A124fs, A1733fs
Other names
-
Canonical SPDI
NC_000018.10:23882017:GGG:GGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555724066
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 28, 2017 RCV000665771.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMA3 - - GRCh38
GRCh37
776 814

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 28, 2017)
criteria provided, single submitter
Method: clinical testing
Junctional epidermolysis bullosa gravis of Herlitz
Allele origin: unknown
Counsyl
Accession: SCV000789942.1
Submitted: (Jul 10, 2018)
Evidence details

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.

Text-mined citations for rs1555724066...

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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 Nov 27, 2021