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NM_005639.3(SYT1):c.1076T>C (p.Val359Ala) AND Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 9, 2022
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:
RCV002250828.1

Allele description [Variation Report for NM_005639.3(SYT1):c.1076T>C (p.Val359Ala)]

NM_005639.3(SYT1):c.1076T>C (p.Val359Ala)

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.1076T>C (p.Val359Ala)
HGVS:
  • NC_000012.12:g.79448931T>C
  • NM_001135805.2:c.1076T>C
  • NM_001135806.2:c.1076T>C
  • NM_001291901.2:c.1067T>C
  • NM_005639.3:c.1076T>CMANE SELECT
  • NP_001129277.1:p.Val359Ala
  • NP_001129278.1:p.Val359Ala
  • NP_001278830.1:p.Val356Ala
  • NP_005630.1:p.Val359Ala
  • NC_000012.11:g.79842711T>C
Protein change:
V356A
Links:
dbSNP: rs1593076434
NCBI 1000 Genomes Browser:
rs1593076434
Molecular consequence:
  • NM_001135805.2:c.1076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135806.2:c.1076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291901.2:c.1067T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005639.3:c.1076T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Uncertain function
Observations:
1

Condition(s)

Name:
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Synonyms:
BAKER-GORDON SYNDROME; NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM
Identifiers:
MONDO: MONDO:0033864; MedGen: C4748715; OMIM: 618218

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002520718Molecular Genetics, Sadra Medical Genetics Laboratory
no assertion criteria provided
Uncertain significance
(May 9, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Iraniangermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Molecular Genetics, Sadra Medical Genetics Laboratory, SCV002520718.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Iranian1not providednot providedclinical testingnot provided

Description

This variant was seen in a 28 years old normal female.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023