NM_003322.6(TULP1):c.1496-6C>A AND Retinitis pigmentosa 14

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 8, 2021
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:: RCV001376339.3

Allele description [Variation Report for NM_003322.6(TULP1):c.1496-6C>A]

NM_003322.6(TULP1):c.1496-6C>A

Gene:

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.1496-6C>A

HGVS:

NC_000006.12:g.35498466G>T
NG_009077.1:g.19405C>A
NM_001289395.2:c.1337-6C>A
NM_003322.6:c.1496-6C>AMANE SELECT
NC_000006.11:g.35466243G>T
NM_003322.3:c.1496-6C>A
NM_003322.4:c.1496-6C>A
NM_003322.5:c.1496-6C>A

Links:

dbSNP: rs281865171

NCBI 1000 Genomes Browser:

rs281865171

Molecular consequence:

NM_001289395.2:c.1337-6C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_003322.6:c.1496-6C>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001573453	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 8, 2021)	germline	research	PubMed (4) [See all records that cite these PMIDs] 9462750, 28981474, 9660588, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001573453

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 8, 2021)

germline

research

PubMed (4)
[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	research

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

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Comander J, Weigel-DiFranco C, Maher M, Place E, Wan A, Harper S, Sandberg MA, Navarro-Gomez D, Pierce EA.

Genes (Basel). 2017 Oct 5;8(10). doi: 10.3390/genes8100256.

PubMed [citation]

PMID:: 28981474
PMCID:: PMC5664106

See all PubMed Citations (4)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573453.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (4)

Description

The TULP1 c.1496-6C>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS1, PM2, PM3, PP3. Based on this evidence we have classified this variant as Likely Pathogenic.

#	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: Nov 24, 2024

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