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NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) AND ACTG1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 20, 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:
RCV003117736.2

Allele description [Variation Report for NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp)]

NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp)

Gene:
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp)
HGVS:
  • NC_000017.11:g.81511374G>A
  • NG_011433.1:g.6428C>T
  • NM_001199954.3:c.616C>T
  • NM_001614.5:c.616C>TMANE SELECT
  • NP_001186883.1:p.Arg206Trp
  • NP_001605.1:p.Arg206Trp
  • NC_000017.10:g.79478400G>A
  • NC_000017.10:g.79478400G>A
  • NM_001614.3:c.616C>T
  • NM_001614.4:c.616C>T
  • NR_037688.3:n.688C>T
Protein change:
R206W
Links:
dbSNP: rs1598548614
NCBI 1000 Genomes Browser:
rs1598548614
Molecular consequence:
  • NM_001199954.3:c.616C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001614.5:c.616C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037688.3:n.688C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
ACTG1-related disorder
Synonyms:
ACTG1-Related Disorders; ACTG1-related condition
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003800892Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Jan 20, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Stutterd CA, Brock S, Stouffs K, Fanjul-Fernandez M, Lockhart PJ, McGillivray G, Mandelstam S, Pope K, Delatycki MB, Jansen A, Leventer RJ.

Brain Commun. 2021;3(1):fcaa221. doi: 10.1093/braincomms/fcaa221.

PubMed [citation]
PMID:
33604570
PMCID:
PMC7878248

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003800892.2

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

Description

Variant summary: ACTG1 c.616C>T (p.Arg206Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250910 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.616C>T has been reported in the literature in the de novo state in a patient affected with bilateral perisylvian polymicrogyria (Stutterd_2020). These data indicate the variant is likely to be disease causing. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Two submitters classified the variant as likely pathogenic and one classified as VUS. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: May 19, 2024