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NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 2023
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:
RCV003307800.2

Allele description [Variation Report for NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)]

NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)

Gene:
KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)
HGVS:
  • NC_000001.11:g.111981657G>A
  • NG_032011.2:g.12499C>T
  • NM_001378969.1:c.1070C>TMANE SELECT
  • NM_001378970.1:c.1070C>T
  • NM_004980.4:c.1070C>T
  • NM_004980.5:c.1070C>T
  • NM_172198.3:c.1070C>T
  • NP_001365898.1:p.Ser357Leu
  • NP_001365899.1:p.Ser357Leu
  • NP_004971.2:p.Ser357Leu
  • NP_751948.1:p.Ser357Leu
  • LRG_445t1:c.1070C>T
  • LRG_445:g.12499C>T
  • NC_000001.10:g.112524279G>A
Protein change:
S357L
Links:
dbSNP: rs867628133
NCBI 1000 Genomes Browser:
rs867628133
Molecular consequence:
  • NM_001378969.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378970.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004980.5:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172198.3:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004000976Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 24, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, BĂ©jot Y, Philippe C, Thauvin-Robinet C, et al.

J Med Genet. 2022 May;59(5):445-452. doi: 10.1136/jmedgenet-2020-107369. Epub 2021 Mar 5.

PubMed [citation]
PMID:
34085946

Details of each submission

From Ambry Genetics, SCV004000976.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.S357L variant (also known as c.1070C>T), located in coding exon 1 of the KCND3 gene, results from a C to T substitution at nucleotide position 1070. The serine at codon 357 is replaced by leucine, an amino acid with dissimilar properties. This variant has been detected in an individual reported to have cerebellar ataxia (Thomas Q et al. J Med Genet, 2022 May;59:445-452). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jun 23, 2024