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NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) AND SYT1-associated neurodevelopmental disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2018
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:
RCV000721124.2

Allele description [Variation Report for NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)]

NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)

Gene:
SYT1:synaptotagmin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.2
Genomic location:
Preferred name:
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)
HGVS:
  • NC_000012.12:g.79448958T>C
  • NM_001135805.2:c.1103T>C
  • NM_001135806.2:c.1103T>C
  • NM_001291901.2:c.1094T>C
  • NM_005639.3:c.1103T>CMANE SELECT
  • NP_001129277.1:p.Ile368Thr
  • NP_001129278.1:p.Ile368Thr
  • NP_001278830.1:p.Ile365Thr
  • NP_005630.1:p.Ile368Thr
  • NC_000012.11:g.79842738T>C
  • NM_001135805.1:c.1103T>C
  • NM_005639.2:c.1103T>C
Protein change:
I365T; ILE368THR
Links:
OMIM: 185605.0001; dbSNP: rs1135402761
NCBI 1000 Genomes Browser:
rs1135402761
Molecular consequence:
  • NM_001135805.2:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135806.2:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291901.2:c.1094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005639.3:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SYT1-associated neurodevelopmental disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000852012Raymond Lab, University of Cambridge
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 1, 2018) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes4not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

SYT1-associated neurodevelopmental disorder: a case series.

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; et al.

Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209.

PubMed [citation]
PMID:
30107533
PMCID:
PMC6113648

Details of each submission

From Raymond Lab, University of Cambridge, SCV000852012.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Oct 26, 2024