NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2Y

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 3, 2022
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:: RCV003063835.2

Allele description

NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs)

Gene:

TOR1AIP1:torsin 1A interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

1q25.2

Genomic location:

Preferred name:

NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs)

HGVS:

NC_000001.11:g.179918208_179918209insT
NG_042316.1:g.41167_41168insT
NM_001267578.2:c.1724_1725insT
NM_015602.4:c.1721_1722insTMANE SELECT
NP_001254507.1:p.Glu575fs
NP_056417.2:p.Glu574fs
NC_000001.10:g.179887343_179887344insT

Protein change:

E574fs

Molecular consequence:

NM_001267578.2:c.1724_1725insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015602.4:c.1721_1722insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2Y (MRRSDC)
Synonyms:: Muscular dystrophy, limb-girdle, type 2y; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures
Identifiers:: MONDO: MONDO:0014900; MedGen: C4511482; Orphanet: 424261; OMIM: 617072

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003348777	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003348777

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 3, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003348777.2

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

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the TOR1AIP1 gene (p.Glu575Aspfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acid(s) of the TOR1AIP1 protein and extend the protein by 13 additional amino acid residues. This variant has not been reported in the literature in individuals affected with TOR1AIP1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Feb 20, 2024

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