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NM_006767.4(LZTR1):c.1785+1G>C

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 7, 2020)
Accession:
VCV000984443.1
Variation ID:
984443
Description:
single nucleotide variant
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NM_006767.4(LZTR1):c.1785+1G>C

Allele ID
972527
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 20994728 (GRCh38) GRCh38 UCSC
22: 21349017 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_989:g.17460G>C
LRG_989t1:c.1785+1G>C
NC_000022.10:g.21349017G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:20994727:G:C
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
Pathogenic 1 criteria provided, single submitter - RCV001264409.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LZTR1 - - GRCh38
GRCh37
512 897

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 10
(Autosomal dominant inheritance)
Allele origin: de novo
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
Accession: SCV001441612.1
Submitted: (Nov 07, 2020)
Evidence details
Comment:
ACMG classification: pathogenic (class 5: PVS1, PM2, PP3)

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