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NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(4);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Aug 31, 2021)
Last evaluated:
Jun 4, 2021
Accession:
VCV000043322.9
Variation ID:
43322
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)

Allele ID
52492
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77211314 (GRCh38) GRCh38 UCSC
11: 76922359 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1420:g.88069G>A
LRG_1420t1:c.6214G>A LRG_1420p1:p.Val2072Ile
NC_000011.10:g.77211314G>A
... more HGVS
Protein change
V2072I, V2023I, V2034I
Other names
-
Canonical SPDI
NC_000011.10:77211313:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00035
1000 Genomes Project 0.00120
Exome Aggregation Consortium (ExAC) 0.00088
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00178
The Genome Aggregation Database (gnomAD) 0.00188
Trans-Omics for Precision Medicine (TOPMed) 0.00201
Links
ClinGen: CA132426
dbSNP: rs200313391
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 27, 2017 RCV000036227.3
Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 4, 2021 RCV000515066.7
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000263244.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000320711.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000379059.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYO7A - - GRCh38
GRCh37
2206 2216

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 11, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610332.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal dominant 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374510.3
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
Usher syndrome type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374511.3
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)
Likely benign
(Sep 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000856359.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059879.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Val2072Ile in exon 45 of MYO7A: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (114/19526) of … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374509.3
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)
Likely benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001109513.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 04, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001812158.1
Submitted: (Aug 31, 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=MYO7A - - - -

Text-mined citations for rs200313391...

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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 29, 2021