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NM_002471.4(MYH6):c.4708A>G (p.Ile1570Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 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:
RCV003380896.2

Allele description [Variation Report for NM_002471.4(MYH6):c.4708A>G (p.Ile1570Val)]

NM_002471.4(MYH6):c.4708A>G (p.Ile1570Val)

Genes:
LOC126861896:BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 [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.4708A>G (p.Ile1570Val)
HGVS:
  • NC_000014.9:g.23386566T>C
  • NG_023444.1:g.26712A>G
  • NM_002471.4:c.4708A>GMANE SELECT
  • NP_002462.2:p.Ile1570Val
  • LRG_389t1:c.4708A>G
  • LRG_389:g.26712A>G
  • NC_000014.8:g.23855775T>C
  • NM_002471.3:c.4708A>G
Protein change:
I1570V
Links:
dbSNP: rs1258827113
NCBI 1000 Genomes Browser:
rs1258827113
Molecular consequence:
  • NM_002471.4:c.4708A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004088733Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jul 11, 2023)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.

Burstein DS, Gaynor JW, Griffis H, Ritter A, Connor MJO, Rossano JW, Lin KY, Ahrens-Nicklas RC.

Pediatr Res. 2021 May;89(6):1470-1476. doi: 10.1038/s41390-020-1101-5. Epub 2020 Aug 3.

PubMed [citation]
PMID:
32746448
PMCID:
PMC8256333

Details of each submission

From Ambry Genetics, SCV004088733.2

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

Description

The p.I1570V variant (also known as c.4708A>G), located in coding exon 31 of the MYH6 gene, results from an A to G substitution at nucleotide position 4708. The isoleucine at codon 1570 is replaced by valine, an amino acid with highly similar properties. This alteration has been reported in a pediatric cardiomyopathy cohort (Burstein DS et al. Pediatr Res, 2021 May;89:1470-1476). This amino acid position is not well conserved in available vertebrate species. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024