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NM_000310.4(PPT1):c.236A>G (p.Asp79Gly) AND Neuronal ceroid lipofuscinosis 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1998
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:
RCV000009452.3

Allele description

NM_000310.4(PPT1):c.236A>G (p.Asp79Gly)

Gene:
PPT1:palmitoyl-protein thioesterase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_000310.4(PPT1):c.236A>G (p.Asp79Gly)
HGVS:
  • NC_000001.11:g.40092171T>C
  • NG_009192.1:g.10300A>G
  • NM_000310.4:c.236A>GMANE SELECT
  • NM_001142604.2:c.125-2659A>G
  • NM_001363695.2:c.236A>G
  • NP_000301.1:p.Asp79Gly
  • NP_000301.1:p.Asp79Gly
  • NP_001350624.1:p.Asp79Gly
  • LRG_690t1:c.236A>G
  • LRG_690:g.10300A>G
  • LRG_690p1:p.Asp79Gly
  • NC_000001.10:g.40557843T>C
  • NM_000310.3:c.236A>G
  • P50897:p.Asp79Gly
Protein change:
D79G; ASP79GLY
Links:
UniProtKB: P50897#VAR_005551; OMIM: 600722.0003; dbSNP: rs137852697
NCBI 1000 Genomes Browser:
rs137852697
Molecular consequence:
  • NM_001142604.2:c.125-2659A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000310.4:c.236A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363695.2:c.236A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029670OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM.

Hum Mol Genet. 1998 Feb;7(2):291-7. Erratum in: Hum Mol Genet 1998 Apr;7(4):765.

PubMed [citation]
PMID:
9425237

Details of each submission

From OMIM, SCV000029670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 1 of 22 disease chromosomes from 11 patients with juvenile-onset CLN1 (256730), Mitchison et al. (1998) identified an asp79-to-gly (D79G) missense mutation in the PPT1 gene. It was present in compound heterozygous state with the R151X mutation (600722.0006).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022