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NM_006514.4(SCN10A):c.1712C>T (p.Pro571Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2022
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:
RCV002301023.2

Allele description [Variation Report for NM_006514.4(SCN10A):c.1712C>T (p.Pro571Leu)]

NM_006514.4(SCN10A):c.1712C>T (p.Pro571Leu)

Gene:
SCN10A:sodium voltage-gated channel alpha subunit 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_006514.4(SCN10A):c.1712C>T (p.Pro571Leu)
HGVS:
  • NC_000003.12:g.38752262G>A
  • NG_031891.3:g.68955C>T
  • NM_001293306.2:c.1712C>T
  • NM_001293307.2:c.1462-2078C>T
  • NM_006514.4:c.1712C>TMANE SELECT
  • NP_001280235.2:p.Pro571Leu
  • NP_006505.4:p.Pro571Leu
  • NC_000003.11:g.38793753G>A
  • NG_031891.2:g.46749C>T
  • NM_006514.2:c.1712C>T
Protein change:
P571L
Molecular consequence:
  • NM_001293307.2:c.1462-2078C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293306.2:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006514.4:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002588357GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 27, 2022) 		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, SCV002588357.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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

Last Updated: Sep 29, 2024