U.S. flag

An official website of the United States government

NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe) AND Opsoclonus-myoclonus syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002286329.3

Allele description [Variation Report for NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe)]

NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe)

Gene:
SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe)
HGVS:
  • NC_000016.10:g.23380487C>T
  • NG_011908.1:g.83218C>T
  • NM_000336.3:c.1609C>TMANE SELECT
  • NM_001410900.1:c.1501C>T
  • NP_000327.2:p.Leu537Phe
  • NP_001397829.1:p.Leu501Phe
  • NC_000016.9:g.23391808C>T
Protein change:
L501F
Molecular consequence:
  • NM_000336.3:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410900.1:c.1501C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Opsoclonus-myoclonus syndrome
Synonyms:
Dancing eyes-dancing feet syndrome; Infantile polymyoclonus; Kinsbourne syndrome
Identifiers:
MONDO: MONDO:0015247; MedGen: C0393626

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002573788Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe, SCV002573788.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 13, 2025