NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) AND MYO7A-Related Disorders

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000319894.1

Allele description

NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)

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.5899C>T (p.Arg1967Ter)

HGVS:

NC_000011.10:g.77208472C>T
NG_009086.1:g.85208C>T
NG_009086.2:g.85227C>T
NM_000260.4:c.5899C>TMANE SELECT
NM_001127180.2:c.5785C>T
NM_001369365.1:c.5752C>T
NP_000251.3:p.Arg1967Ter
NP_001120652.1:p.Arg1929Ter
NP_001356294.1:p.Arg1918Ter
LRG_1420t1:c.5899C>T
LRG_1420:g.85227C>T
LRG_1420p1:p.Arg1967Ter
NC_000011.9:g.76919517C>T
NM_000260.3:c.5899C>T
p.Arg1967X

Protein change:

R1918*

Links:

dbSNP: rs376764423

NCBI 1000 Genomes Browser:

rs376764423

Molecular consequence:

NM_000260.4:c.5899C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127180.2:c.5785C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001369365.1:c.5752C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: MYO7A-Related Disorders
Identifiers:: MedGen: CN239407

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000374493	Illumina Clinical Services Laboratory,Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely pathogenic (Jun 14, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23770805, 25468891, 27208204 ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000374493

Illumina Clinical Services Laboratory,Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely pathogenic
(Jun 14, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM.

Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14.

PubMed [citation]

PMID:: 23770805
PMCID:: PMC4030297

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

See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000374493.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.5899C>T (p.Arg1967Ter) stop-gained variant has been reported in three studies in patients with Usher syndrome and is found in four affected siblings from a consanguineous family in a homozygous state, in one patient in a compound heterozygous state, and in one patient in a heterozygous state who also carried a second missense variant, but the phase is unknown (Shahzad et al. 2013; Bujakowska et al. 2014; Ellingford et al. 2016). The variant is also found in one unaffected parent in a heterozygous state (Bujakowska et al. 2014). One affected relative from the extended consanguineous family did not carry the p.Arg1967Ter variant. The variant was absent from 190 controls (Shahzad et al. 2013) but is reported at a frequency of 0.00005 in the European (Non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence in the literature and the potential impact of stop-gained variants, the p.Arg1967Ter variant is classified as likely pathogenic for MYO7A-related disorders.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 23, 2021

ClinVar

Relating variation to medicine