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NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu) AND Tremor, hereditary essential, 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 2021
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:
RCV001731170.1

Allele description [Variation Report for NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu)]

NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu)

Genes:
GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu)
Other names:
Na(V)1.4
HGVS:
  • NC_000017.11:g.63941603G>A
  • NG_011699.1:g.36316C>T
  • NG_042788.1:g.24511G>A
  • NM_000334.4:c.4679C>TMANE SELECT
  • NP_000325.4:p.Pro1560Leu
  • NC_000017.10:g.62018963G>A
Protein change:
P1560L
Links:
dbSNP: rs753838641
NCBI 1000 Genomes Browser:
rs753838641
Molecular consequence:
  • NM_000334.4:c.4679C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

Condition(s)

Name:
Tremor, hereditary essential, 6
Identifiers:
MONDO: MONDO:0030027; MedGen: C5394329; OMIM: 618866

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001981604Cologne Center for Genomics, Faculty of Medicine, University of Cologne
no assertion criteria provided
Pathogenic
(Sep 6, 2021) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Kurdishinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Cologne Center for Genomics, Faculty of Medicine, University of Cologne, SCV001981604.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Kurdish1not providednot providedresearchnot provided

Description

Variant is co-segregating with congenital essential tremor in four affected members of a Kurdish family

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

Last Updated: Sep 29, 2024