NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 7, 2014
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:: RCV000623302.10

Allele description [Variation Report for NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)]

NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)

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.3719G>A (p.Arg1240Gln)

HGVS:

NC_000011.10:g.77190108G>A
NG_009086.2:g.66863G>A
NM_000260.4:c.3719G>AMANE SELECT
NM_001127180.2:c.3719G>A
NM_001369365.1:c.3686G>A
NP_000251.3:p.Arg1240Gln
NP_000251.3:p.Arg1240Gln
NP_001120652.1:p.Arg1240Gln
NP_001356294.1:p.Arg1229Gln
LRG_1420t1:c.3719G>A
LRG_1420:g.66863G>A
LRG_1420p1:p.Arg1240Gln
NC_000011.9:g.76901153G>A
NG_009086.1:g.66844G>A
NM_000260.3:c.3719G>A
Q13402:p.Arg1240Gln
c.3719G>A

Protein change:

R1229Q

Links:

UniProtKB: Q13402#VAR_009337; dbSNP: rs111033178

NCBI 1000 Genomes Browser:

rs111033178

Molecular consequence:

NM_000260.4:c.3719G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.3719G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.3686G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741118	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Sep 7, 2014)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 18463160, 10930322, 16400615, 19683999, 16679490, 25525159 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741118

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Sep 7, 2014)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS.

Hum Mol Genet. 2008 Aug 1;17(15):2405-15. doi: 10.1093/hmg/ddn140. Epub 2008 May 7.

PubMed [citation]

PMID:: 18463160
PMCID:: PMC2733815

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP.

Exp Eye Res. 2000 Aug;71(2):173-81.

PubMed [citation]

PMID:: 10930322

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000741118.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	not provided	not provided	clinical testing	PubMed (6)

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

Last Updated: Mar 16, 2025

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