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NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jan 23, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000424803.12

Allele description

NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)

Genes:
PKD2L2-DT:PKD2L2 divergent transcript [Gene - HGNC]
MYOT:myotilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
HGVS:
  • NC_000005.10:g.137870821C>T
  • NG_008894.1:g.7966C>T
  • NM_001135940.2:c.-197+296C>T
  • NM_001300911.2:c.-120-56C>T
  • NM_006790.3:c.170C>TMANE SELECT
  • NP_006781.1:p.Thr57Ile
  • NP_006781.1:p.Thr57Ile
  • LRG_201t1:c.170C>T
  • LRG_201:g.7966C>T
  • LRG_201p1:p.Thr57Ile
  • NC_000005.9:g.137206510C>T
  • NM_006790.2:c.170C>T
Protein change:
T57I; THR57ILE
Links:
OMIM: 604103.0001; dbSNP: rs28937597
NCBI 1000 Genomes Browser:
rs28937597
Molecular consequence:
  • NM_001135940.2:c.-197+296C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300911.2:c.-120-56C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006790.3:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
15

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000331973Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Pathogenic
(Jul 28, 2016)
germlineclinical testing

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

Citation Link,

SCV000515894GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jan 23, 2023)
germlineclinical testing

Citation Link,

SCV000842842Athena Diagnostics Inc
criteria provided, single submitter

(Athena Diagnostics Criteria)
Pathogenic
(May 23, 2018)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown15not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.

Liu J, Wallace LM, Garwick-Coppens SE, Sloboda DD, Davis CS, Hakim CH, Hauser MA, Brooks SV, Mendell JR, Harper SQ.

Mol Ther Nucleic Acids. 2014 Apr 29;3:e160. doi: 10.1038/mtna.2014.13.

PubMed [citation]
PMID:
24781192
PMCID:
PMC4013433

Myotilin overexpression enhances myopathology in the LGMD1A mouse model.

Garvey SM, Liu Y, Miller SE, Hauser MA.

Muscle Nerve. 2008 May;37(5):663-7. doi: 10.1002/mus.20994.

PubMed [citation]
PMID:
18335471
See all PubMed Citations (9)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331973.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided15not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided15not providednot providednot provided

From GeneDx, SCV000515894.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in a family with MYOT-related myopathy in published literature (Hauser et al., 2000); A mouse model carrying the equivalent variant in murine MYOT had progressive myofibrillar pathology including Z-disc streaming, excess myofibrillar vacuolization, and plaque-like myofibrillar aggregation (Garvey et al., 2006); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 21361873, 3275904, 30907627, 32721234, 10958653, 16801328)

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

From Athena Diagnostics Inc, SCV000842842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024