NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) AND Neuronal ceroid lipofuscinosis 1

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000049621.1

Allele description [Variation Report for NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)]

NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)

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.665T>C (p.Leu222Pro)
HGVS:
  • NC_000001.11:g.40078621A>G
  • NG_009192.1:g.23850T>C
  • NM_000310.4:c.665T>CMANE SELECT
  • NM_001142604.2:c.356T>C
  • NM_001363695.2:c.665T>C
  • NP_000301.1:p.Leu222Pro
  • NP_000301.1:p.Leu222Pro
  • NP_001136076.1:p.Leu119Pro
  • NP_001350624.1:p.Leu222Pro
  • LRG_690t1:c.665T>C
  • LRG_690:g.23850T>C
  • LRG_690p1:p.Leu222Pro
  • NC_000001.10:g.40544293A>G
  • NM_000310.3:c.665T>C
  • P50897:p.Leu222Pro
Protein change:
L119P
Links:
UniProtKB: P50897#VAR_066879; dbSNP: rs386833661
NCBI 1000 Genomes Browser:
rs386833661
Molecular consequence:
  • NM_000310.4:c.665T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142604.2:c.356T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363695.2:c.665T>C - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082028Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

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

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082028

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PubMed [citation]
PMID:
21990111

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082028.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jan 12, 2022

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