NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Oct 13, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000731097.4

Allele description [Variation Report for NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)]

NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)

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.2070C>T (p.Gly690=)
HGVS:
  • NC_000009.12:g.135772776C>T
  • NG_033070.1:g.75592C>T
  • NM_001272003.2:c.1935C>T
  • NM_020822.3:c.2070C>TMANE SELECT
  • NP_001258932.1:p.Gly645=
  • NP_065873.2:p.Gly690=
  • NC_000009.11:g.138664622C>T
  • NM_020822.2:c.2070C>T
Links:
dbSNP: rs370155559
NCBI 1000 Genomes Browser:
rs370155559
Molecular consequence:
  • NM_001272003.2:c.1935C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020822.3:c.2070C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000533160GeneDxcriteria provided, single submitter
Benign
(Oct 13, 2019)
germlineclinical testing

Citation Link,

SCV000858873EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 10, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000533160.5

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000858873.1

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

Last Updated: Nov 20, 2021

Support Center