NM_003322.6(TULP1):c.794del (p.Lys265fs) AND Leber congenital amaurosis 15

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 6, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001029926.2

Allele description [Variation Report for NM_003322.6(TULP1):c.794del (p.Lys265fs)]

NM_003322.6(TULP1):c.794del (p.Lys265fs)

Gene:

TULP1:TUB like protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_003322.6(TULP1):c.794del (p.Lys265fs)

HGVS:

NC_000006.12:g.35509240del
NG_009077.1:g.8634del
NM_001289395.2:c.635del
NM_003322.6:c.794delMANE SELECT
NP_001276324.1:p.Lys212fs
NP_003313.3:p.Lys265fs
NC_000006.11:g.35477017del
NM_003322.4:c.794delA

Protein change:

K212fs

Links:

dbSNP: rs1581742615

NCBI 1000 Genomes Browser:

rs1581742615

Molecular consequence:

NM_001289395.2:c.635del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003322.6:c.794del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Leber congenital amaurosis 15 (LCA15)
Identifiers:: MONDO: MONDO:0013457; MedGen: C3151206; Orphanet: 65; OMIM: 613843

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001192722	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Pathogenic (Jun 6, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001192722

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Pathogenic
(Jun 6, 2019)

germline

clinical testing

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 Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001192722.1

#	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: Mar 4, 2023

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