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NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 31, 2020
Accession:
VCV000043244.6
Variation ID:
43244
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)

Allele ID
52414
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77156070 (GRCh38) GRCh38 UCSC
11: 76867116 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.77156070G>A
NC_000011.9:g.76867116G>A
NG_009086.1:g.32807G>A
... more HGVS
Protein change
R150Q, R139Q
Other names
-
Canonical SPDI
NC_000011.10:77156069:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00034
Trans-Omics for Precision Medicine (TOPMed) 0.00037
The Genome Aggregation Database (gnomAD) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00024
The Genome Aggregation Database (gnomAD), exomes 0.00031
The Genome Aggregation Database (gnomAD) 0.00036
Trans-Omics for Precision Medicine (TOPMed) 0.00041
Links
ClinGen: CA132330
dbSNP: rs202245413
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 Mar 6, 2018 RCV000036149.5
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765012.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001109455.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001109456.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001109457.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2020 RCV001241133.2
Uncertain significance 1 no assertion criteria provided Sep 16, 2020 RCV001275891.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYO7A - - GRCh38
GRCh37
2211 2221

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001414128.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 150 of the MYO7A protein (p.Arg150Gln). The arginine residue is moderately conserved and there is a … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1
Deafness, autosomal recessive 2
Deafness, autosomal dominant 11
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896196.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059801.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Arg150Gln var iant in MYO7A has been previously identified by our laboratory in 3 individuals with … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001266796.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001266798.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal dominant 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001266797.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1B
Allele origin: germline
Natera, Inc.
Accession: SCV001461541.1
Submitted: (Dec 28, 2020)
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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs202245413...

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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