U.S. flag

An official website of the United States government

NM_001159699.2(FHL1):c.379+1G>A AND X-linked myopathy with postural muscle atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 2019
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:
RCV001035786.10

Allele description [Variation Report for NM_001159699.2(FHL1):c.379+1G>A]

NM_001159699.2(FHL1):c.379+1G>A

Gene:
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001159699.2(FHL1):c.379+1G>A
HGVS:
  • NC_000023.11:g.136207191G>A
  • NG_015895.1:g.64792G>A
  • NM_001159699.2:c.379+1G>AMANE SELECT
  • NM_001159700.2:c.331+1G>A
  • NM_001159701.2:c.418+1G>A
  • NM_001159702.3:c.331+1G>A
  • NM_001159703.2:c.331+1G>A
  • NM_001159704.1:c.331+1G>A
  • NM_001167819.1:c.331+1G>A
  • NM_001330659.2:c.379+1G>A
  • NM_001369326.1:c.331+1G>A
  • NM_001369327.2:c.331+1G>A
  • NM_001369328.1:c.331+1G>A
  • NM_001369329.1:c.331+1G>A
  • NM_001369330.1:c.331+1G>A
  • NM_001369331.1:c.331+1G>A
  • NM_001449.5:c.331+1G>A
  • LRG_739t1:c.379+1G>A
  • LRG_739t2:c.331+1G>A
  • LRG_739:g.64792G>A
  • NC_000023.10:g.135289350G>A
  • NM_001449.4:c.331+1G>A
Links:
dbSNP: rs2073866799
Molecular consequence:
  • NM_001159699.2:c.379+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001159700.2:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001159701.2:c.418+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001159702.3:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001159703.2:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001159704.1:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001167819.1:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330659.2:c.379+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369326.1:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369327.2:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369328.1:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369329.1:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369330.1:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369331.1:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001449.5:c.331+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
X-linked myopathy with postural muscle atrophy
Synonyms:
FHL1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked
Identifiers:
MONDO: MONDO:0010401; MedGen: C2678055; OMIM: 300696

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
SCV001199121Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 18, 2019) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

PubMed [citation]
PMID:
18179888
PMCID:
PMC2253986
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001199121.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of FHL1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the FHL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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

Last Updated: Apr 12, 2026

Modify your search Search (all fields optional) Clear all
Advanced Search