U.S. flag

An official website of the United States government

NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 2023
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:
RCV003163385.1

Allele description [Variation Report for NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)]

NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)

Genes:
LOC114827851:VISTA enhancer hs2155 [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.71T>C (p.Leu24Pro)
HGVS:
  • NC_000014.9:g.23407153A>G
  • NG_023444.1:g.6125T>C
  • NG_065207.1:g.2686A>G
  • NM_002471.4:c.71T>CMANE SELECT
  • NP_002462.2:p.Leu24Pro
  • LRG_389t1:c.71T>C
  • LRG_389:g.6125T>C
  • NC_000014.8:g.23876362A>G
  • NM_002471.3:c.71T>C
Protein change:
L24P
Links:
dbSNP: rs1320990570
NCBI 1000 Genomes Browser:
rs1320990570
Molecular consequence:
  • NM_002471.4:c.71T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003864565Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jan 18, 2023) 		germlineclinical testing

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

Citation Link

Help

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, SCV003864565.1

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

Description

The p.L24P variant (also known as c.71T>C), located in coding exon 1 of the MYH6 gene, results from a T to C substitution at nucleotide position 71. The leucine at codon 24 is replaced by proline, an amino acid with similar properties. This alteration has been reported in a subject with dilated cardiomyopathy (DCM), atrial fibrillation and bradycardia who also carried a second missense alteration in MYH6 (Seidelmann SB et al. Circ Cardiovasc Genet, 2017 Feb;10:). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Feb 20, 2024