NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000727041.3

Allele description [Variation Report for NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)]

NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)

Gene:
KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
HGVS:
  • NC_000009.12:g.135786300C>T
  • NG_033070.1:g.89116C>T
  • NM_001272003.2:c.3146C>T
  • NM_020822.3:c.3281C>TMANE SELECT
  • NP_001258932.1:p.Thr1049Met
  • NP_065873.2:p.Thr1094Met
  • NC_000009.11:g.138678146C>T
  • NM_020822.2:c.3281C>T
Protein change:
T1049M
Links:
dbSNP: rs373041291
NCBI 1000 Genomes Browser:
rs373041291
Molecular consequence:
  • NM_001272003.2:c.3146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.3281C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000705105EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 16, 2017)
germlineclinical testing

Citation Link,

SCV001248980CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Aug 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000705105.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248980.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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