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NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 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:
RCV003329053.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu)]

NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu)
HGVS:
  • NC_000002.12:g.165991300G>A
  • NG_011906.1:g.87340C>T
  • NM_001165963.4:c.5975C>TMANE SELECT
  • NM_001165964.3:c.5891C>T
  • NM_001202435.3:c.5975C>T
  • NM_001353948.2:c.5975C>T
  • NM_001353949.2:c.5942C>T
  • NM_001353950.2:c.5942C>T
  • NM_001353951.2:c.5942C>T
  • NM_001353952.2:c.5942C>T
  • NM_001353954.2:c.5939C>T
  • NM_001353955.2:c.5939C>T
  • NM_001353957.2:c.5891C>T
  • NM_001353958.2:c.5891C>T
  • NM_001353960.2:c.5888C>T
  • NM_001353961.2:c.3533C>T
  • NM_006920.6:c.5942C>T
  • NP_001159435.1:p.Pro1992Leu
  • NP_001159436.1:p.Pro1964Leu
  • NP_001189364.1:p.Pro1992Leu
  • NP_001340877.1:p.Pro1992Leu
  • NP_001340878.1:p.Pro1981Leu
  • NP_001340879.1:p.Pro1981Leu
  • NP_001340880.1:p.Pro1981Leu
  • NP_001340881.1:p.Pro1981Leu
  • NP_001340883.1:p.Pro1980Leu
  • NP_001340884.1:p.Pro1980Leu
  • NP_001340886.1:p.Pro1964Leu
  • NP_001340887.1:p.Pro1964Leu
  • NP_001340889.1:p.Pro1963Leu
  • NP_001340890.1:p.Pro1178Leu
  • NP_008851.3:p.Pro1981Leu
  • NP_008851.3:p.Pro1981Leu
  • LRG_8t1:c.5942C>T
  • LRG_8:g.87340C>T
  • LRG_8p1:p.Pro1981Leu
  • NC_000002.11:g.166847810G>A
  • NM_001165963.1:c.5975C>T
  • NM_006920.4:c.5942C>T
  • NR_148667.2:n.6392C>T
Protein change:
P1178L
Molecular consequence:
  • NM_001165963.4:c.5975C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.5891C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5975C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5975C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5942C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5942C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5942C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5942C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5939C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5939C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.5891C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.5891C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.5888C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.3533C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5942C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.6392C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004035831GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004035831.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the C-terminal cytoplasmic domain

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

Last Updated: Sep 23, 2023