NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) AND Retinal dystrophy

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jan 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001073681.4

Allele description [Variation Report for NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)]

NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)

Other names:

NM_206933.2(USH2A):c.10073G>A(p.Cys3358Tyr); NP_996816.3:p.(Cys3358Tyr)

HGVS:

NC_000001.11:g.215790168C>T
NG_009497.2:g.638281G>A
NM_206933.4:c.10073G>AMANE SELECT
NP_996816.3:p.Cys3358Tyr
NC_000001.10:g.215963510C>T
NG_009497.1:g.638229G>A
NM_206933.2:c.10073G>A
NM_206933.3:c.10073G>A
O75445:p.Cys3358Tyr

Protein change:

C3358Y

Links:

UniProtKB: O75445#VAR_068356; dbSNP: rs148660051

Molecular consequence:

NM_206933.4:c.10073G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239234	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Aug 15, 2019)	germline	clinical testing	Citation Link,
SCV005068677	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2023)	germline	clinical testing	PubMed (25) [See all records that cite these PMIDs] 20507924, 22004887, 25097241, 25472526, 28559085, 29953849, 31589614, 32326409, 31964843, 31980526, 32176120, 33258288, 31456290, 32581362, 32531858, 32037395, 33576794, 33737949, 33749171, 34758253, 36011334, 35266249, 36672815, 36819107, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239234

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Aug 15, 2019)

germline

clinical testing

Citation Link,

SCV005068677

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2023)

germline

clinical testing

PubMed (25)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.

J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.

PubMed [citation]

PMID:: 20507924
PMCID:: PMC3070405

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E.

Orphanet J Rare Dis. 2011 Oct 17;6:65. doi: 10.1186/1750-1172-6-65.

PubMed [citation]

PMID:: 22004887
PMCID:: PMC3207874

See all PubMed Citations (25)

Details of each submission

From Blueprint Genetics, SCV001239234.1

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

#	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 Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005068677.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (25)

#	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

Last Updated: Jul 14, 2026

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