NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001582974.3

Allele description [Variation Report for NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)]

NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)
HGVS:
  • NC_000002.12:g.166288544T>G
  • NG_012798.1:g.92444A>C
  • NM_001365536.1:c.1207A>CMANE SELECT
  • NM_002977.3:c.1207A>C
  • NP_001352465.1:p.Met403Leu
  • NP_002968.1:p.Met403Leu
  • LRG_369t1:c.1207A>C
  • LRG_369:g.92444A>C
  • LRG_369p1:p.Met403Leu
  • NC_000002.11:g.167145054T>G
Protein change:
M403L
Links:
dbSNP: rs746956041
NCBI 1000 Genomes Browser:
rs746956041
Molecular consequence:
  • NM_001365536.1:c.1207A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.1207A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001813030GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 12, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001813030.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 6, 2021

Support Center