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NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 3, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000197036.6
Variation ID:
197036
Description:
single nucleotide variant
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NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)

Allele ID
194197
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q12.2
Genomic location
8: 60865385 (GRCh38) GRCh38 UCSC
8: 61777944 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_176t1:c.8446T>C
LRG_176:g.191606T>C
NC_000008.10:g.61777944T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:60865384:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00025
The Genome Aggregation Database (gnomAD), exomes 0.00007
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00012
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
Links
ClinGen: CA244937
dbSNP: rs375204972
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jun 12, 2014 RCV000177944.4
Likely benign 1 criteria provided, single submitter Jul 18, 2016 RCV000719249.1
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV001086566.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHD7 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1607 1635

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 12, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229907.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV001004928.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jul 18, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850115.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 18, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001829549.1
Submitted: (Sep 03, 2021)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CHD7 - - - -

Text-mined citations for rs375204972...

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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 Sep 07, 2021