NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) AND Retinitis pigmentosa 14

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 1, 2023
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:: RCV000007783.9

Allele description [Variation Report for NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)]

NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)

Genes:

TEAD3:TEA domain transcription factor 3 [Gene - OMIM - HGNC]
TULP1:TUB like protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)

HGVS:

NC_000006.12:g.35500005A>G
NG_009077.1:g.17866T>C
NM_001289395.2:c.1312T>C
NM_003322.3:c.1471T>C
NM_003322.6:c.1471T>CMANE SELECT
NP_001276324.1:p.Phe438Leu
NP_003313.3:p.Phe491Leu
NC_000006.11:g.35467782A>G
NM_003322.5:c.1471T>C
O00294:p.Phe491Leu

Protein change:

F438L; PHE491LEU

Links:

UniProtKB: O00294#VAR_007943; OMIM: 602280.0002; dbSNP: rs121909074

NCBI 1000 Genomes Browser:

rs121909074

Molecular consequence:

NM_001289395.2:c.1312T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003322.6:c.1471T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 14 (RP14)
Synonyms:: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED; RP 14
Identifiers:: MONDO: MONDO:0010827; MedGen: C1838603; Orphanet: 791; OMIM: 600132

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027984	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV003762120	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 1, 2023)	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

SCV000027984

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1998)

germline

literature only

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

SCV003762120

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 1, 2023)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP.

Nat Genet. 1998 Feb;18(2):174-6.

PubMed [citation]

PMID:: 9462750

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 OMIM, SCV000027984.3

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

Description

For discussion of the phe491-to-leu (F491L) mutation in the TULP1 gene that was found in compound heterozygous state in a patient with autosomal recessive retinitis pigmentosa (RP14; 600132) by Hagstrom et al. (1998), see 602280.0001.

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV003762120.2

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

Last Updated: Oct 20, 2024

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