NM_003322.6(TULP1):c.1351C>T (p.Gln451Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 26, 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:: RCV001958547.4

Allele description [Variation Report for NM_003322.6(TULP1):c.1351C>T (p.Gln451Ter)]

NM_003322.6(TULP1):c.1351C>T (p.Gln451Ter)

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.1351C>T (p.Gln451Ter)

HGVS:

NC_000006.12:g.35500125G>A
NG_009077.1:g.17746C>T
NM_001289395.2:c.1192C>T
NM_003322.6:c.1351C>TMANE SELECT
NP_001276324.1:p.Gln398Ter
NP_003313.3:p.Gln451Ter
NC_000006.11:g.35467902G>A

Protein change:

Q398*

Links:

dbSNP: rs1487555931

NCBI 1000 Genomes Browser:

rs1487555931

Molecular consequence:

NM_001289395.2:c.1192C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003322.6:c.1351C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002224963	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 26, 2021)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 8606774, 10549638, 15024725, 18055821, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002224963

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 26, 2021)

germline

clinical testing

PubMed (5)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A candidate gene for the mouse mutation tubby.

Noben-Trauth K, Naggert JK, North MA, Nishina PM.

Nature. 1996 Apr 11;380(6574):534-8.

PubMed [citation]

PMID:: 8606774

Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix.

Hagstrom SA, Duyao M, North MA, Li T.

Invest Ophthalmol Vis Sci. 1999 Nov;40(12):2795-802.

PubMed [citation]

PMID:: 10549638

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002224963.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TULP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln451*) in the TULP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821).

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

Last Updated: Sep 29, 2024

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