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NM_000257.4(MYH7):c.704C>A (p.Thr235Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001193368.1

Allele description [Variation Report for NM_000257.4(MYH7):c.704C>A (p.Thr235Asn)]

NM_000257.4(MYH7):c.704C>A (p.Thr235Asn)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.704C>A (p.Thr235Asn)
HGVS:
  • NC_000014.9:g.23431613G>T
  • NG_007884.1:g.9049C>A
  • NM_000257.4:c.704C>AMANE SELECT
  • NP_000248.2:p.Thr235Asn
  • LRG_384:g.9049C>A
  • NC_000014.8:g.23900822G>T
  • NM_000257.3:c.704C>A
Protein change:
T235N
Links:
dbSNP: rs1892944195
NCBI 1000 Genomes Browser:
rs1892944195
Molecular consequence:
  • NM_000257.4:c.704C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001362132Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 29, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

Wang J, Wang Y, Zou Y, Sun K, Wang Z, Ding H, Yuan J, Wei W, Hou Q, Wang H, Liu X, Zhang H, Ji Y, Zhou X, Sharma RK, Wang D, Ahmad F, Hui R, Song L.

Eur J Heart Fail. 2014 Sep;16(9):950-7. doi: 10.1002/ejhf.144. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25132132

Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition.

Robert-Paganin J, Auguin D, Houdusse A.

Nat Commun. 2018 Oct 1;9(1):4019. doi: 10.1038/s41467-018-06191-4.

PubMed [citation]
PMID:
30275503
PMCID:
PMC6167380

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: MYH7 c.704C>A (p.Thr235Asn) results in a non-conservative amino acid change located in the Myosin head, motor domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251492 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.704C>A has been reported in the literature in an individual affected with Cardiomyopathy (Wang_2014). This report does not provide an unequivocal conclusion about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 5, 2022