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NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 27, 2012
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:
RCV000158592.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met)]

NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met)

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.3163C>A (p.Leu1055Met)
Other names:
p.L1055M:CTG>ATG
HGVS:
  • NC_000014.9:g.23422262G>T
  • NG_007884.1:g.18400C>A
  • NM_000257.4:c.3163C>AMANE SELECT
  • NP_000248.2:p.Leu1055Met
  • LRG_384t1:c.3163C>A
  • LRG_384:g.18400C>A
  • NC_000014.8:g.23891471G>T
  • NM_000257.2:c.3163C>A
Protein change:
L1055M
Links:
dbSNP: rs730880769
NCBI 1000 Genomes Browser:
rs730880769
Molecular consequence:
  • NM_000257.4:c.3163C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208527GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 27, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208527.10

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

Description

p.Leu1055Met (CTG>ATG): c.3163 C>A in exon 25 of the MYH7 gene (NM_000257.2). The Leu1055Met variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Leu1055Met results in a conservative amino acid substitution of one non-polar amino acid with another at a position that is conserved across species. In silico analysis predicts Leu1055Met is damaging to the protein structure/function. Mutations in nearby residues (Arg1053Gln, Gly1057Asp, Gly1057Ser) have been reported in association with cardiomyopathy, further supporting the functional importance of this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Leu1055Met was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, while Leu1055Met is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. The variant is found in HCM panel(s).

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

Last Updated: Nov 5, 2022