NM_001159699.2(FHL1):c.606dup (p.Val203fs) AND X-linked myopathy with postural muscle atrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 27, 2024
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:: RCV005205944.1

Allele description [Variation Report for NM_001159699.2(FHL1):c.606dup (p.Val203fs)]

NM_001159699.2(FHL1):c.606dup (p.Val203fs)

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.606dup (p.Val203fs)

HGVS:

NC_000023.11:g.136208511dup
NG_015895.1:g.66112dup
NM_001159699.2:c.606dupMANE SELECT
NM_001159700.2:c.558dup
NM_001159701.2:c.645dup
NM_001159702.3:c.558dup
NM_001159703.2:c.501+550dup
NM_001159704.1:c.558dup
NM_001167819.1:c.558dup
NM_001330659.2:c.549+550dup
NM_001369326.1:c.558dup
NM_001369327.2:c.558dup
NM_001369328.1:c.558dup
NM_001369329.1:c.558dup
NM_001369330.1:c.558dup
NM_001369331.1:c.558dup
NM_001449.5:c.558dup
NP_001153171.1:p.Val203fs
NP_001153172.1:p.Val187fs
NP_001153173.1:p.Val216fs
NP_001153174.1:p.Val187fs
NP_001153176.1:p.Val187fs
NP_001161291.1:p.Val187fs
NP_001356255.1:p.Val187fs
NP_001356256.1:p.Val187fs
NP_001356257.1:p.Val187fs
NP_001356258.1:p.Val187fs
NP_001356259.1:p.Val187fs
NP_001356260.1:p.Val187fs
NP_001440.2:p.Val187fs
LRG_739t1:c.606dup
LRG_739t2:c.558dup
LRG_739:g.66112dup
LRG_739p1:p.Val203fs
LRG_739p2:p.Val187fs
NC_000023.10:g.135290667_135290668insT
NC_000023.10:g.135290670dup
NR_027621.2:n.969dup

Protein change:

V187fs

Molecular consequence:

NM_001159699.2:c.606dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159700.2:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159701.2:c.645dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159702.3:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159704.1:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167819.1:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369326.1:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369327.2:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369328.1:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369329.1:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369330.1:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369331.1:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001449.5:c.558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159703.2:c.501+550dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001330659.2:c.549+550dup - intron variant - [Sequence Ontology: SO:0001627]
NR_027621.2:n.969dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: X-linked myopathy with postural muscle atrophy
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
SCV005844052	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 27, 2024)	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

SCV005844052

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 27, 2024)

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, SCV005844052.1

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

Description

This sequence change creates a premature translational stop signal (p.Val187Cysfs*7) in the FHL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: May 16, 2025

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