Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 3, 2021)
Last evaluated:
Oct 12, 2016
Accession:
VCV000178993.7
Variation ID:
178993
Description:
single nucleotide variant
Help

NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)

Allele ID
178258
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 76868004 (GRCh37) GRCh37 UCSC
11: 77156958 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.77156958C>T
NC_000011.9:g.76868004C>T
NG_009086.1:g.33695C>T
... more HGVS
Protein change
A230V, A219V
Other names
-
Canonical SPDI
NC_000011.10:77156957:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278740
dbSNP: rs797044512
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 11, 2013 RCV000155771.1
Likely pathogenic 1 criteria provided, single submitter Oct 12, 2016 RCV000506187.3
Pathogenic 2 criteria provided, single submitter - RCV001254945.2
Pathogenic 1 no assertion criteria provided Feb 16, 2016 RCV000225087.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 11, 2013)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205482.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The Ala230Val variant in MYO7A has been reported in a large Italian pedigree aff ected with nonsyndromic post-lingual progressive hearing loss showing autosomal dominant inheritance(Di … (more)
Likely pathogenic
(Oct 12, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604428.1
Submitted: (Jun 30, 2017)
Evidence details
Pathogenic
(-)
criteria provided, single submitter
Method: research
Bilateral sensorineural hearing impairment
Allele origin: germline
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo
Accession: SCV001762978.1
Submitted: (Aug 03, 2021)
Evidence details
Publications
PubMed (2)
Comment:
pathogenic missense heterozygous variant was found to segregate with HL in six members of the same family
Pathogenic
(Feb 16, 2016)
no assertion criteria provided
Method: research
Deafness, autosomal dominant 11
Allele origin: germline
Laboratory of Prof. Karen Avraham,Tel Aviv University
Accession: SCV000281977.1
Submitted: (May 03, 2016)
Comment:
NSHL; dominant, DFNA11
Evidence details
Comment:
childhood onset, progressive HL, also myopia
Likely pathogenic
(Jan 20, 2020)
no assertion criteria provided
Method: clinical testing
Bilateral sensorineural hearing impairment
Allele origin: maternal
New York Genome Center
Accession: SCV001431027.2
Submitted: (Jul 31, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.Ala230Val missense variant has been reported to co-segregate with autosomal dominant non-syndromic progressive hearing loss in a large Italian family [PMID: 16449806]. The p.Ala230Val … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Genetic etiology of non-syndromic hearing loss in Latin America. Lezirovitz K Human genetics 2021 PMID: 34652575
The first sporadic case of DFNA11 identified by next-generation sequencing. Kaneko Y International journal of pediatric otorhinolaryngology 2017 PMID: 28802369
Novel OTOF mutations in Brazilian patients with auditory neuropathy. Romanos J Journal of human genetics 2009 PMID: 19461658
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Di Leva F Audiology & neuro-otology 2006 PMID: 16449806

Text-mined citations for rs797044512...

Help
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