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NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002311994.9

Allele description [Variation Report for NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)]

NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)

Gene:
ITPR1:inositol 1,4,5-trisphosphate receptor type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p26.1
Genomic location:
Preferred name:
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
HGVS:
  • NC_000003.12:g.4697198G>A
  • NG_016144.1:g.208851G>A
  • NM_001099952.4:c.4306G>A
  • NM_001168272.2:c.4288G>A
  • NM_001378452.1:c.4333G>AMANE SELECT
  • NM_002222.7:c.4261G>A
  • NP_001093422.2:p.Val1436Met
  • NP_001161744.1:p.Val1430Met
  • NP_001365381.1:p.Val1445Met
  • NP_002213.5:p.Val1421Met
  • NC_000003.11:g.4738882G>A
  • NM_001168272.1:c.4288G>A
  • NM_002222.5:c.4261G>A
Protein change:
V1421M
Links:
dbSNP: rs1559718601
NCBI 1000 Genomes Browser:
rs1559718601
Molecular consequence:
  • NM_001099952.4:c.4306G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168272.2:c.4288G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378452.1:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002222.7:c.4261G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 29 (SCA29)
Synonyms:
CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT; Spinocerebellar ataxia 29, congenital nonprogressive
Identifiers:
MONDO: MONDO:0007298; MedGen: C1861732; Orphanet: 208513; OMIM: 117360
Name:
Spinocerebellar ataxia type 15/16 (SCA15)
Synonyms:
Spinocerebellar Ataxia Type 15
Identifiers:
MONDO: MONDO:0011694; MedGen: C1847725; OMIM: 606658
Name:
Gillespie syndrome (GLSP)
Synonyms:
Aniridia, cerebellar ataxia, and mental deficiency; Aniridia-cerebellar ataxia-intellectual disability syndrome
Identifiers:
MONDO: MONDO:0008795; MedGen: C0431401; Orphanet: 1065; OMIM: 206700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840339GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840339.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025