NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) AND Usher syndrome type 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 22, 2022
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:: RCV000036223.15

Allele description [Variation Report for NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)]

NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)

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.6070C>T (p.Arg2024Ter)

HGVS:

NC_000011.10:g.77211170C>T
NG_009086.2:g.87925C>T
NM_000260.4:c.6070C>TMANE SELECT
NM_001127180.2:c.5956C>T
NM_001369365.1:c.5923C>T
NP_000251.3:p.Arg2024Ter
NP_000251.3:p.Arg2024Ter
NP_001120652.1:p.Arg1986Ter
NP_001356294.1:p.Arg1975Ter
LRG_1420t1:c.6070C>T
LRG_1420:g.87925C>T
LRG_1420p1:p.Arg2024Ter
NC_000011.9:g.76922215C>T
NG_009086.1:g.87906C>T
NM_000260.3:c.6070C>T
c.6070C>T
p.Arg2024X

Protein change:

R1975*

Links:

dbSNP: rs111033198

NCBI 1000 Genomes Browser:

rs111033198

Molecular consequence:

NM_000260.4:c.6070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127180.2:c.5956C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001369365.1:c.5923C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Usher syndrome type 1 (USH1)
Synonyms:: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS; Usher syndrome, type I, French variety
Identifiers:: MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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
SCV000268746	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002581697	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268746

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV002581697

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 22, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, literature only

Citations

PubMed

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, et al.

Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.

PubMed [citation]

PMID:: 21569298
PMCID:: PMC3125325

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, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneReviews, SCV000268746.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

From MGZ Medical Genetics Center, SCV002581697.1

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

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

Last Updated: Mar 16, 2025

ClinVar

Relating variation to medicine