U.S. flag

An official website of the United States government

NM_001458.5(FLNC):c.1936G>C (p.Asp646His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 15, 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:
RCV004023307.1

Allele description [Variation Report for NM_001458.5(FLNC):c.1936G>C (p.Asp646His)]

NM_001458.5(FLNC):c.1936G>C (p.Asp646His)

Gene:
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.1936G>C (p.Asp646His)
HGVS:
  • NC_000007.14:g.128841292G>C
  • NG_011807.1:g.15864G>C
  • NM_001127487.2:c.1936G>C
  • NM_001458.5:c.1936G>CMANE SELECT
  • NP_001120959.1:p.Asp646His
  • NP_001449.3:p.Asp646His
  • NP_001449.3:p.Asp646His
  • LRG_870t1:c.1936G>C
  • LRG_870:g.15864G>C
  • LRG_870p1:p.Asp646His
  • NC_000007.13:g.128481346G>C
  • NM_001458.4:c.1936G>C
Protein change:
D646H
Links:
dbSNP: rs372668691
NCBI 1000 Genomes Browser:
rs372668691
Molecular consequence:
  • NM_001127487.2:c.1936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.1936G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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
SCV005017674Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 15, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.

Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, et al.

J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8.

PubMed [citation]
PMID:
31069529

Details of each submission

From Ambry Genetics, SCV005017674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.D646H variant (also known as c.1936G>C), located in coding exon 12 of the FLNC gene, results from a G to C substitution at nucleotide position 1936. The aspartic acid at codon 646 is replaced by histidine, an amino acid with similar properties. This alteration has been reported in a cohort of subjects with neurological disorders (Ganapathy A et al. J Neurol, 2019 Aug;266:1919-1926). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024