NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 6, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000725742.6

Allele description [Variation Report for NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)]

NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)

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.4075C>T (p.Arg1359Cys)

Other names:

p.R1359C:CGC>TGC; NM_000257.3(MYH7):c.4075C>T(p.Arg1359Cys)

HGVS:

NC_000014.9:g.23418304G>A
NG_007884.1:g.22358C>T
NM_000257.4:c.4075C>TMANE SELECT
NP_000248.2:p.Arg1359Cys
LRG_384t1:c.4075C>T
LRG_384:g.22358C>T
NC_000014.8:g.23887513G>A
NM_000257.2:c.4075C>T
NM_000257.3:c.4075C>T
P12883:p.Arg1359Cys

Protein change:

R1359C

Links:

UniProtKB: P12883#VAR_073883; dbSNP: rs45451303

NCBI 1000 Genomes Browser:

rs45451303

Molecular consequence:

NM_000257.4:c.4075C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208567	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 6, 2020)	germline	clinical testing	Citation Link,
SCV000339111	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jan 20, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208567

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 6, 2020)

germline

clinical testing

Citation Link,

SCV000339111

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jan 20, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208567.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Previously reported in patients with cardiomyopathy (Klaassen et al., 2008, Hershberger et al., 2008; Probst et al., 2011); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 178082; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 21551322, 19412328, 27066506, 18506004, 28790153, 31983221, 32789579)

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

From Eurofins Ntd Llc (ga), SCV000339111.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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