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NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) AND Autosomal recessive limb-girdle muscular dystrophy type 2Y

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Sep 10, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV001387848.9

Allele description [Variation Report for NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)]

NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)

Gene:
TOR1AIP1:torsin 1A interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.2
Genomic location:
Preferred name:
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)
HGVS:
  • NC_000001.11:g.179907856C>G
  • NG_042316.1:g.30815C>G
  • NM_001267578.2:c.833C>G
  • NM_015602.4:c.830C>GMANE SELECT
  • NP_001254507.1:p.Ser278Ter
  • NP_056417.2:p.Ser277Ter
  • NC_000001.10:g.179876991C>G
Protein change:
S277*
Links:
dbSNP: rs2148480016
NCBI 1000 Genomes Browser:
rs2148480016
Molecular consequence:
  • NM_001267578.2:c.833C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015602.4:c.830C>G - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001588568Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Mar 17, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002098674Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Sep 10, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Correspondence: Operating room flash fire.

Schettler WH.

Anesth Analg. 1974 Mar-Apr;53(2):288-9. No abstract available.

PubMed [citation]
PMID:
4856141

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST.

Neuromuscul Disord. 2016 Aug;26(8):500-3. doi: 10.1016/j.nmd.2016.05.013. Epub 2016 May 24.

PubMed [citation]
PMID:
27342937
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001588568.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser278*) in the TOR1AIP1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with TOR1AIP1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TOR1AIP1 are known to be pathogenic (PMID: 4856141, 27342937).

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

From Genome-Nilou Lab, SCV002098674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024