NM_001159699.2(FHL1):c.360dup (p.Phe121fs) AND X-linked myopathy with postural muscle atrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 5, 2021
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:: RCV000646187.7

Allele description [Variation Report for NM_001159699.2(FHL1):c.360dup (p.Phe121fs)]

NM_001159699.2(FHL1):c.360dup (p.Phe121fs)

Gene:

FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_001159699.2(FHL1):c.360dup (p.Phe121fs)

HGVS:

NC_000023.11:g.136207171dup
NG_015895.1:g.64772dup
NM_001159699.2:c.360dupMANE SELECT
NM_001159700.2:c.312dup
NM_001159701.2:c.399dup
NM_001159702.3:c.312dup
NM_001159703.2:c.312dup
NM_001159704.1:c.312dup
NM_001167819.1:c.312dup
NM_001330659.2:c.360dup
NM_001369326.1:c.312dup
NM_001369327.2:c.312dup
NM_001369328.1:c.312dup
NM_001369329.1:c.312dup
NM_001369330.1:c.312dup
NM_001369331.1:c.312dup
NM_001449.5:c.312dup
NP_001153171.1:p.Phe121fs
NP_001153172.1:p.Phe105fs
NP_001153173.1:p.Phe134fs
NP_001153174.1:p.Phe105fs
NP_001153175.1:p.Phe105fs
NP_001153176.1:p.Phe105fs
NP_001161291.1:p.Phe105fs
NP_001317588.1:p.Phe121fs
NP_001356255.1:p.Phe105fs
NP_001356256.1:p.Phe105fs
NP_001356257.1:p.Phe105fs
NP_001356258.1:p.Phe105fs
NP_001356259.1:p.Phe105fs
NP_001356260.1:p.Phe105fs
NP_001440.2:p.Phe105fs
LRG_739t1:c.360dup
LRG_739t2:c.312dup
LRG_739:g.64772dup
LRG_739p1:p.Phe121fs
LRG_739p2:p.Phe105fs
NC_000023.10:g.135289329_135289330insC
NC_000023.10:g.135289330dup
NM_001449.4:c.312dupC
NR_027621.2:n.723dup

Protein change:

F105fs

Links:

dbSNP: rs1556638935

Molecular consequence:

NM_001159699.2:c.360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159700.2:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159701.2:c.399dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159702.3:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159703.2:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159704.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167819.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330659.2:c.360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369326.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369327.2:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369328.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369329.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369330.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369331.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001449.5:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027621.2:n.723dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000767946	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 5, 2021)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 18179888, 19687455, 19716112, 22523091, 24114807, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000767946

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 5, 2021)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Consequences of mutations within the C terminus of the FHL1 gene.

Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PubMed [citation]

PMID:: 19687455

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000767946.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant has not been reported in the literature in individuals with FHL1-related disease. 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. This sequence change creates a premature translational stop signal (p.Phe105Leufs*26) in the FHL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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