U.S. flag

An official website of the United States government

NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) AND MYO7A-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004528177.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)]

NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
Other names:
NM_000260.4(MYO7A):c.401T>A
HGVS:
  • NC_000011.10:g.77156022T>A
  • NG_009086.2:g.32777T>A
  • NM_000260.4:c.401T>AMANE SELECT
  • NM_001127180.2:c.401T>A
  • NM_001369365.1:c.368T>A
  • NP_000251.3:p.Ile134Asn
  • NP_001120652.1:p.Ile134Asn
  • NP_001356294.1:p.Ile123Asn
  • LRG_1420t1:c.401T>A
  • LRG_1420:g.32777T>A
  • LRG_1420p1:p.Ile134Asn
  • NC_000011.9:g.76867068T>A
  • NG_009086.1:g.32759T>A
  • NM_000260.3:c.401T>A
  • Q13402:p.Ile134Asn
  • c.401T>A
Protein change:
I123N
Links:
UniProtKB: Q13402#VAR_024042; dbSNP: rs111033181
NCBI 1000 Genomes Browser:
rs111033181
Molecular consequence:
  • NM_000260.4:c.401T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.401T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.368T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MYO7A-related disorder
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001423720Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)
Uncertain significance
(Nov 1, 2019)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Targeted exon sequencing in Usher syndrome type I.

Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA.

Invest Ophthalmol Vis Sci. 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169.

PubMed [citation]
PMID:
25468891
PMCID:
PMC4280089

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH.

Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.

PubMed [citation]
PMID:
26969326
PMCID:
PMC4796320

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001423720.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The MYO7A c.401T>A (p.Ile134Asn) variant is a missense variant which has been reported in two studies in which it has been identified in a compound heterozygous state in two patients with Usher syndrome (Bujakowska et al. 2014; Sloan-Heggen et al. 2016). The p.Ile134Asn variant is reported at a frequency of 0.000062 in the European (non-Finnish) population of the Genome Aggregation Database in a region of good sequence coverage, suggesting that it is a rare variant. The p.Ile134Asn variant is highly conserved through evolution, and in silico tools predict the variant to be damaging for the protein function. Functional studies for the variant were not performed. Based on the limited evidence and application of the ACMG criteria, the p.Ile134Asn variant is classified as a variant of unknown significance for MYO7A-related disorders.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 1, 2025