NM_006790.2(MYOT):c.170C>T (p.Thr57Ile)

Variation ID: Help
5834
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 28, 2016
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_006790.2(MYOT):c.170C>T (p.Thr57Ile)

Allele ID:
20873
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
  • Chr5: 137870821 (on Assembly GRCh38)
  • Chr5: 137206510 (on Assembly GRCh37)
Protein change:
T57I
HGVS:
  • NG_008894.1:g.7966C>T
  • NM_001135940.1:c.-197+296C>T
  • NM_006790.2:c.170C>T
  • NP_006781.1:p.Thr57Ile
  • NC_000005.10:g.137870821C>T (GRCh38)
  • LRG_201t1:c.170C>T
  • NC_000005.9:g.137206510C>T (GRCh37)
  • LRG_201p1:p.Thr57Ile
  • LRG_201:g.7966C>T
Links:
NCBI 1000 Genomes Browser:
rs28937597
Molecular consequence:
  • NM_001135940.1:c.-197+296C>T: intron variant SO:0001627
  • NM_006790.2:c.170C>T: missense variant SO:0001583

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jul 28, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000331973.2
Pathogenic
(Apr 1, 2015)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000515894.2
    Pathogenic
    (Sep 1, 2000)
    no assertion criteria providedliterature onlygermlineOMIMSCV000026372.2
    Pathogenic
    (Oct 29, 2012)
    no assertion criteria providedliterature onlynot providedGeneReviewsSCV000055883.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided15germline, not providednot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided15germlinenot providednot providedThe c.170C>T (p.T57I) MYOT pat…Full description
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe T57I variant in the MYOT g…Full description
    GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 30, 2017