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NM_000257.4(MYH7):c.732+1G>C AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 20, 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:
RCV003736968.1

Allele description [Variation Report for NM_000257.4(MYH7):c.732+1G>C]

NM_000257.4(MYH7):c.732+1G>C

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.732+1G>C
HGVS:
  • NC_000014.9:g.23431584C>G
  • NG_007884.1:g.9078G>C
  • NM_000257.4:c.732+1G>CMANE SELECT
  • NM_001407004.1:c.732+1G>C
  • LRG_384:g.9078G>C
  • NC_000014.8:g.23900793C>G
  • NM_000257.3:c.732+1G>C
Links:
dbSNP: rs730880850
NCBI 1000 Genomes Browser:
rs730880850
Molecular consequence:
  • NM_000257.4:c.732+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407004.1:c.732+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004565073ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Likely pathogenic
(Apr 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004565073.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MYH7 c.732+1G>C variant (rs730880850), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID:849269). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Additionally, other changes at this splice site have been reported in two families with left ventricular noncompaction and in one individual with Ebstein anomaly and are considered to be disease causing (Klaassen 2008, Sicko 2016). This variant disrupts the canonical splice donor site of intron 8, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic. References: Klaassen S et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008 Jun 3;117(22):2893-901. PMID: 18506004. Sicko RJ et al. Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PLoS One. 2016 Oct 27;11(10):e0165174. PMID: 27788187.

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

Last Updated: Sep 29, 2024