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NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Oct 31, 2018
Accession:
VCV000229007.2
Variation ID:
229007
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)

Allele ID
230245
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77203137 (GRCh38) GRCh38 UCSC
11: 76914182 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1420:g.79892G>A
LRG_1420t1:c.5246G>A LRG_1420p1:p.Arg1749Gln
NC_000011.10:g.77203137G>A
... more HGVS
Protein change
R1749Q, R1700Q, R1711Q
Other names
-
Canonical SPDI
NC_000011.10:77203136:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA6198654
dbSNP: rs781537330
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 Aug 18, 2015 RCV000216251.1
Uncertain significance 1 criteria provided, single submitter Apr 12, 2017 RCV000666572.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765018.1
Uncertain significance 1 no assertion criteria provided Jan 24, 2020 RCV001272810.1
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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
2153 2163

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 12, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1
Deafness, autosomal recessive 2
Allele origin: unknown
Counsyl
Accession: SCV000790882.1
Submitted: (Jul 10, 2018)
Evidence details
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: SCV000896202.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Aug 18, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272154.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Arg1749Gln variant in MYO7A has not been previously reported in individual s with hearing loss. Data from large population studies are insufficient to asse … (more)
Uncertain significance
(Jan 24, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1B
Allele origin: germline
Natera, Inc.
Accession: SCV001455176.1
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 rs781537330...

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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 18, 2021