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NM_024301.5(FKRP):c.1429del (p.Val477fs) AND Walker-Warburg congenital muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 9, 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:
RCV003755850.2

Allele description [Variation Report for NM_024301.5(FKRP):c.1429del (p.Val477fs)]

NM_024301.5(FKRP):c.1429del (p.Val477fs)

Gene:
FKRP:fukutin related protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_024301.5(FKRP):c.1429del (p.Val477fs)
HGVS:
  • NC_000019.10:g.46756879del
  • NG_008898.2:g.15834del
  • NM_001039885.3:c.1429del
  • NM_024301.5:c.1429delMANE SELECT
  • NP_001034974.1:p.Val477fs
  • NP_077277.1:p.Val477fs
  • LRG_761t1:c.1429del
  • LRG_761:g.15834del
  • LRG_761p1:p.Val477fs
  • NC_000019.9:g.47260133del
  • NC_000019.9:g.47260136del
Protein change:
V477fs
Molecular consequence:
  • NM_001039885.3:c.1429del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024301.5:c.1429del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Walker-Warburg congenital muscular dystrophy
Synonyms:
Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome
Identifiers:
MONDO: MONDO:0000171; MedGen: C0265221; Orphanet: 899; OMIM: PS236670

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004457416Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 9, 2023) 		germlineclinical testing

PubMed (4)
[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

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, Rutherford M, Talim B, Ricci E, Voit T, Muntoni F.

Arch Neurol. 2006 Feb;63(2):251-7.

PubMed [citation]
PMID:
16476814

Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.

Wahbi K, Meune C, Hamouda el H, Stojkovic T, Laforêt P, Bécane HM, Eymard B, Duboc D.

Neuromuscul Disord. 2008 Aug;18(8):650-5. doi: 10.1016/j.nmd.2008.06.365. Epub 2008 Jul 17.

PubMed [citation]
PMID:
18639457
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004457416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKRP protein in which other variant(s) (p.Ile478Thr) have been determined to be pathogenic (PMID: 16476814, 18639457, 19299310). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FKRP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val477Serfs*13) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the FKRP protein.

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

Last Updated: Sep 29, 2024