NM_000257.4(MYH7):c.799C>G (p.Leu267Val) AND Hypertrophic cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 21, 2015
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:: RCV000154595.5

Allele description [Variation Report for NM_000257.4(MYH7):c.799C>G (p.Leu267Val)]

NM_000257.4(MYH7):c.799C>G (p.Leu267Val)

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.799C>G (p.Leu267Val)

HGVS:

NC_000014.9:g.23430997G>C
NG_007884.1:g.9665C>G
NM_000257.4:c.799C>GMANE SELECT
NP_000248.2:p.Leu267Val
LRG_384t1:c.799C>G
LRG_384:g.9665C>G
NC_000014.8:g.23900206G>C
NM_000257.2:c.799C>G

Protein change:

L267V

Links:

dbSNP: rs727504409

NCBI 1000 Genomes Browser:

rs727504409

Molecular consequence:

NM_000257.4:c.799C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

Recent activity

Clear Turn Off Turn On

Tongue spasticity
Tongue spasticity

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000204268	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Sep 21, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23233322, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204268

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Sep 21, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Kassem HSh, Azer RS, Saber-Ayad M, Moharem-Elgamal S, Magdy G, Elguindy A, Cecchi F, Olivotto I, Yacoub MH.

J Cardiovasc Transl Res. 2013 Feb;6(1):65-80. doi: 10.1007/s12265-012-9425-0. Epub 2012 Dec 12. Erratum in: J Cardiovasc Transl Res. 2013 Aug;6(4):663. Ayad, Maha S [corrected to Saber-Ayad, Maha].

PubMed [citation]

PMID:: 23233322
PMCID:: PMC3546296

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204268.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Dec 24, 2022

ClinVar

Relating variation to medicine