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NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter) AND Myopathy, congenital, progressive, with scoliosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000850254.3

Allele description [Variation Report for NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)]

NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)

Gene:
PAX7:paired box 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)
HGVS:
  • NC_000001.11:g.18635222C>T
  • NG_023262.1:g.9217C>T
  • NM_001135254.2:c.433C>TMANE SELECT
  • NM_002584.3:c.433C>T
  • NM_013945.3:c.433C>T
  • NP_001128726.1:p.Arg145Ter
  • NP_002575.1:p.Arg145Ter
  • NP_039236.1:p.Arg145Ter
  • NC_000001.10:g.18961716C>T
  • NM_002584.2:c.433C>T
Protein change:
R145*; ARG145TER
Links:
OMIM: 167410.0001; dbSNP: rs752326328
NCBI 1000 Genomes Browser:
rs752326328
Molecular consequence:
  • NM_001135254.2:c.433C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002584.3:c.433C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_013945.3:c.433C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Myopathy, congenital, progressive, with scoliosis
Synonyms:
CONGENITAL MYOPATHY 19
Identifiers:
MONDO: MONDO:0032821; MedGen: C5231417; OMIM: 618578

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992426OMIM
no assertion criteria provided
Pathogenic
(Jul 16, 2024) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, et al.

Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16.

PubMed [citation]
PMID:
31092906

Details of each submission

From OMIM, SCV000992426.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 14-year-old Canadian boy (patient 1), born of consanguineous parents, with congenital myopathy-19 (CMYO19; 618578), Feichtinger et al. (2019) identified a homozygous c.433C-T transition (c.433C-T, NM_002584.2) in exon 3 of the PAX7 gene, resulting in an arg145-to-ter (R145X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not found in the ExAC or gnomAD databases. Analysis of patient skeletal muscle cells showed absence of PAX7 mRNA and protein, consistent with a complete loss of function.

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

Last Updated: Jul 29, 2024