NM_000310.4(PPT1):c.281_282del (p.Thr94fs) AND Neuronal ceroid lipofuscinosis 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 16, 2017
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:: RCV000669944.1

Allele description [Variation Report for NM_000310.4(PPT1):c.281_282del (p.Thr94fs)]

NM_000310.4(PPT1):c.281_282del (p.Thr94fs)

Gene:

PPT1:palmitoyl-protein thioesterase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_000310.4(PPT1):c.281_282del (p.Thr94fs)

HGVS:

NC_000001.11:g.40092126_40092127del
NG_009192.1:g.10345_10346del
NM_000310.4:c.281_282delMANE SELECT
NM_001142604.2:c.125-2614_125-2613del
NM_001363695.2:c.281_282del
NP_000301.1:p.Thr94fs
NP_001350624.1:p.Thr94fs
LRG_690:g.10345_10346del
NC_000001.10:g.40557798_40557799del
NM_000310.3:c.281_282delCA

Protein change:

T94fs

Links:

dbSNP: rs1553167479

NCBI 1000 Genomes Browser:

rs1553167479

Molecular consequence:

NM_000310.4:c.281_282del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363695.2:c.281_282del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142604.2:c.125-2614_125-2613del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Neuronal ceroid lipofuscinosis 1 (CLN1)
Synonyms:: CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; CLN1 variable age at onset; Infantile CLN (type of CLN1); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009744; MedGen: C1850451; OMIM: 256730

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000794747	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Oct 16, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794747

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Oct 16, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000794747.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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