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NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2022
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:
RCV002442761.2

Allele description [Variation Report for NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr)]

NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr)

Gene:
MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr)
HGVS:
  • NC_000014.9:g.23396728A>G
  • NG_023444.1:g.16550T>C
  • NM_002471.4:c.2258T>CMANE SELECT
  • NP_002462.2:p.Ile753Thr
  • NP_002462.2:p.Ile753Thr
  • LRG_389t1:c.2258T>C
  • LRG_389:g.16550T>C
  • LRG_389p1:p.Ile753Thr
  • NC_000014.8:g.23865937A>G
  • NM_002471.3:c.2258T>C
Protein change:
I753T
Links:
dbSNP: rs369729808
NCBI 1000 Genomes Browser:
rs369729808
Molecular consequence:
  • NM_002471.4:c.2258T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002733343Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 7, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A.

Circ Cardiovasc Genet. 2017 Feb;10(1). doi:pii: e001573. 10.1161/CIRCGENETICS.116.001573.

PubMed [citation]
PMID:
28087566
PMCID:
PMC5245580

Details of each submission

From Ambry Genetics, SCV002733343.2

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

Description

The p.I753T variant (also known as c.2258T>C), located in coding exon 17 of the MYH6 gene, results from a T to C substitution at nucleotide position 2258. The isoleucine at codon 753 is replaced by threonine, an amino acid with similar properties. This variant has been detected in an individual referred for hypertrophic cardiomyopathy genetic testing and in a son who was reported to have some left ventricular hypertrophy; however, details were limited (Seidelmann SB et al. Circ Cardiovasc Genet, 2017 Feb;10). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Mar 5, 2024