NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) AND not provided

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Jul 12, 2024
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:: RCV000724202.13

Allele description [Variation Report for NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)]

NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)

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.611G>T (p.Arg204Leu)

HGVS:

NC_000014.9:g.23431789C>A
NG_007884.1:g.8873G>T
NM_000257.4:c.611G>TMANE SELECT
NP_000248.2:p.Arg204Leu
LRG_384t1:c.611G>T
LRG_384:g.8873G>T
NC_000014.8:g.23900998C>A
NM_000257.2:c.611G>T
NM_000257.3:c.611G>T

Protein change:

R204L

Links:

dbSNP: rs397516260

NCBI 1000 Genomes Browser:

rs397516260

Molecular consequence:

NM_000257.4:c.611G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000208685	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jul 12, 2024)	germline	clinical testing	Citation Link,
SCV000928265	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Mar 6, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208685

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jul 12, 2024)

germline

clinical testing

Citation Link,

SCV000928265

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Mar 6, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	4	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000208685.15

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

Description

Reported in association with hypertrophic cardiomyopathy (HCM) or unexplained cardiac arrest in individuals referred for genetic testing at GeneDx and in published literature; detailed clinical and segregation data were often not provided (PMID: 27532257, 33673806, 35352813, 37652022); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24111713, 27247418, 27841901, 21310275, 12707239, 33673806, 35352813, 27532257, 37652022, 26338694, 29300372)

#	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), SCV000231502.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	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		4	not provided	not provided	not provided

From Blueprint Genetics, SCV000928265.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000231502	Eurofins Ntd Llc (ga)	flagged submission Reason: Older claim that does not account for recent evidence Notes: None (EGL Classification Definitions 2015)	Uncertain significance (Dec 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000231502

Eurofins Ntd Llc (ga)

flagged submission

Reason: Older claim that does not account for recent evidence

Notes: None

(EGL Classification Definitions 2015)

Uncertain significance
(Dec 3, 2015)

germline

clinical testing

Citation Link

Last Updated: Oct 13, 2024

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