NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) AND Peripheral neuropathy, myopathy, hoarseness, and hearing loss

Clinical significance:Pathogenic (Last evaluated: Aug 18, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000023718.4

Allele description [Variation Report for NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)]

NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)

Gene:
MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)
HGVS:
  • NC_000019.10:g.50268255G>T
  • NG_011645.1:g.69628G>T
  • NM_001077186.2:c.2822G>T
  • NM_001145809.2:c.2921G>TMANE SELECT
  • NM_024729.3:c.2798G>T
  • NP_001070654.1:p.Arg941Leu
  • NP_001070654.1:p.Arg941Leu
  • NP_001139281.1:p.Arg974Leu
  • NP_079005.3:p.Arg933Leu
  • NC_000019.9:g.50771512G>T
  • NM_001077186.1:c.2822G>T
Protein change:
R933L; ARG941LEU
Links:
OMIM: 608568.0006; dbSNP: rs113993956
NCBI 1000 Genomes Browser:
rs113993956
Molecular consequence:
  • NM_001077186.2:c.2822G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145809.2:c.2921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024729.3:c.2798G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)
Identifiers:
MONDO: MONDO:0013711; MedGen: C3280556; Orphanet: 397744; OMIM: 614369

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045009OMIMno assertion criteria providedPathogenic
(Jun 1, 2011)
germlineliterature only

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

SCV000292358Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Pathogenic
(Aug 18, 2015)
germlineresearch

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedresearch
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Z├╝chner S, Chung KW.

Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7.

PubMed [citation]
PMID:
21480433
PMCID:
PMC3103632

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]
PMID:
23806086
PMCID:
PMC3706849
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000045009.3

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

Description

In affected members of a large Korean family with autosomal dominant inheritance of peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH; 614369), Choi et al. (2011) identified a heterozygous 2822G-T transversion in the MYH14 gene, resulting in an arg941-to-leu (R941L) substitution in a highly conserved residue in the tail domain. The mutation was not found in 566 control chromosomes. The mutation was found by genomewide linkage analysis followed by candidate gene sequencing.

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

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000292358.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (4)

Description

This variant has been previously reported as disease-causing and was identified in a 12 yo male with axonal neuropathy and neurosensory hearing loss.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Aug 20, 2020

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