NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND Congenital myotonia, autosomal recessive form

Clinical significance:Likely pathogenic (Last evaluated: Nov 26, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000191069.1

Allele description [Variation Report for NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)]

NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)

Gene:
CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
HGVS:
  • NC_000007.14:g.143321720_143321721delinsTC
  • NG_009815.1:g.10595_10596delinsTC
  • NG_009815.2:g.10595_10596delinsTC
  • NM_000083.3:c.568_569delinsTCMANE SELECT
  • NP_000074.3:p.Gly190Ser
  • NC_000007.13:g.143018813_143018814delinsTC
  • NM_000083.2:c.568_569delGGinsTC
  • NR_046453.2:n.670_671delinsTC
  • p.GLY190SER
Protein change:
G190S
Links:
dbSNP: rs797045032
NCBI 1000 Genomes Browser:
rs797045032
Molecular consequence:
  • NM_000083.3:c.568_569delinsTC - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046453.2:n.670_671delinsTC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Congenital myotonia, autosomal recessive form
Synonyms:
Myotonia congenita autosomal recessive; Becker disease; Myotonia generalized; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009715; MedGen: C0751360; Orphanet: 614; OMIM: 255700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000245461Baylor Genetics - Adult_WEScriteria provided, single submitter
Likely pathogenic
(Nov 26, 2013)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]
PMID:
24088041
PMCID:
PMC4211433

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, et al.

Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.

PubMed [citation]
PMID:
26633545
PMCID:
PMC4892996

Details of each submission

From Baylor Genetics - Adult_WES, SCV000245461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing
(GTR000508680.4)
PubMed (2)

Description

Likely pathogenicity based on finding it once in our laboratory with a known pathogenic missense variant (F167L; phase unknown) in a 46-year-old male with heart arrhythmia, hypertrophic cardiomyopathy, neuromuscular disease, EMG evidence of myopathy with myotonic discharges and mild length-dependent neuropathy, poor balance, short stature, scoliosis, small hands.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000508680.4)
1not provided1not provided

Last Updated: Sep 18, 2021

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