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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 5, 2015)
Last evaluated:
Aug 18, 2015
Accession:
VCV000030739.1
Variation ID:
30739
Description:
single nucleotide variant
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NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)

Allele ID
39696
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.33
Genomic location
19: 50268255 (GRCh38) GRCh38 UCSC
19: 50771512 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.50268255G>T
NC_000019.9:g.50771512G>T
NG_011645.1:g.69628G>T
... more HGVS
Protein change
R941L, R974L, R933L
Other names
-
Canonical SPDI
NC_000019.10:50268254:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
-
Links
dbSNP: rs113993956
ClinGen: CA129426
OMIM: 608568.0006
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Aug 18, 2015 RCV000023718.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH14 - - GRCh38
GRCh37
675 694

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 18, 2015)
criteria provided, single submitter
Method: research
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
(Autosomal dominant inheritance)
Allele origin: germline
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Accession: SCV000292358.1
Submitted: (Nov 05, 2015)
Evidence details
Publications
PubMed (2)
Comment:
This variant has been previously reported as disease-causing and was identified in a 12 yo male with axonal neuropathy and neurosensory hearing loss.
Pathogenic
(Jun 01, 2011)
no assertion criteria provided
Method: literature only
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (1 family)
Allele origin: germline
OMIM
Accession: SCV000045009.3
Submitted: (Apr 06, 2012)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Gonzaga-Jauregui C Cell reports 2015 PMID: 26257172
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. Yang Y The New England journal of medicine 2013 PMID: 24088041
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Lupski JR Genome medicine 2013 PMID: 23806086
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Choi BO Human mutation 2011 PMID: 21480433

Text-mined citations for rs113993956...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021