NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 23, 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:: RCV001073415.2

Allele description [Variation Report for NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)]

NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)

HGVS:

NC_000001.11:g.215674778G>A
NG_009497.2:g.753671C>T
NM_206933.4:c.13133C>TMANE SELECT
NP_996816.3:p.Pro4378Leu
NC_000001.10:g.215848120G>A
NC_000001.10:g.215848120G>A
NG_009497.1:g.753619C>T
NM_206933.2:c.13133C>T
NM_206933.3:c.13133C>T
p.Pro4378Leu

Protein change:

P4378L

Links:

dbSNP: rs570277510

NCBI 1000 Genomes Browser:

rs570277510

Molecular consequence:

NM_206933.4:c.13133C>T - 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
SCV001238956	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Jan 23, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001238956

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Jan 23, 2019)

germline

clinical testing

Citation Link

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

Details of each submission

From Blueprint Genetics, SCV001238956.1

#	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

Last Updated: Jan 19, 2025

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