NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 19, 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:: RCV002334344.1

Allele description [Variation Report for NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)]

NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)

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.4624C>A (p.Leu1542Met)

HGVS:

NC_000014.9:g.23387555G>T
NG_023444.1:g.25723C>A
NM_002471.4:c.4624C>AMANE SELECT
NP_002462.2:p.Leu1542Met
NP_002462.2:p.Leu1542Met
LRG_389t1:c.4624C>A
LRG_389:g.25723C>A
LRG_389p1:p.Leu1542Met
NC_000014.8:g.23856764G>T
NM_002471.3:c.4624C>A

Protein change:

L1542M

Links:

dbSNP: rs750721562

NCBI 1000 Genomes Browser:

rs750721562

Molecular consequence:

NM_002471.4:c.4624C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002635525	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jul 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002635525

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jul 19, 2022)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002635525.1

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

Description

The p.L1542M variant (also known as c.4624C>A), located in coding exon 30 of the MYH6 gene, results from a C to A substitution at nucleotide position 4624. The leucine at codon 1542 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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

Last Updated: Feb 20, 2024

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