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NM_022834.5(VWA1):c.62_71del (p.Gly21fs) AND Neuronopathy, distal hereditary motor, autosomal recessive 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 2023
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:
RCV001310235.10

Allele description [Variation Report for NM_022834.5(VWA1):c.62_71del (p.Gly21fs)]

NM_022834.5(VWA1):c.62_71del (p.Gly21fs)

Gene:
VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_022834.5(VWA1):c.62_71del (p.Gly21fs)
HGVS:
  • NC_000001.11:g.1435800GCGCGGAGCG[1]
  • NC_000001.11:g.1435800_1435809GCGCGGAGCG[1]
  • NM_022834.5:c.62_71delMANE SELECT
  • NM_199121.3:c.62_71del
  • NP_073745.2:p.Gly21fs
  • NP_954572.2:p.Gly21fs
  • NC_000001.10:g.1371180GCGCGGAGCG[1]
  • NM_022834.4:c.62_71del
Protein change:
G21fs
Links:
OMIM: 611901.0005; dbSNP: rs749383814
NCBI 1000 Genomes Browser:
rs749383814
Molecular consequence:
  • NM_022834.5:c.62_71del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199121.3:c.62_71del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neuronopathy, distal hereditary motor, autosomal recessive 7
Synonyms:
Neuropathy, hereditary motor, with myopathic features; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7
Identifiers:
MONDO: MONDO:0030977; MedGen: C5543119; OMIM: 619216

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001499849OMIM
no assertion criteria provided
Pathogenic
(Oct 17, 2023) 		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

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, et al.

Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418.

PubMed [citation]
PMID:
33459760

Details of each submission

From OMIM, SCV001499849.2

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

Description

In 5 sibs, born of consanguineous Arab parents (F3), with autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7; 619216), Deschauer et al. (2021) identified a homozygous 10-bp deletion (c.62_71del, NM_022834.4) in the VWA1 gene, predicted to result in a frameshift and premature termination (Gly21AlafsTer12). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The heterozygous variant was present at a low frequency in the gnomAD database; no homozygous loss-of-function VWA1 variants were observed. The findings were consistent with a loss-of-function effect, although functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Nov 10, 2024