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NM_000257.4(MYH7):c.193T>C (p.Tyr65His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 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:
RCV003487789.1

Allele description [Variation Report for NM_000257.4(MYH7):c.193T>C (p.Tyr65His)]

NM_000257.4(MYH7):c.193T>C (p.Tyr65His)

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.193T>C (p.Tyr65His)
HGVS:
  • NC_000014.9:g.23433540A>G
  • NG_007884.1:g.7122T>C
  • NM_000257.4:c.193T>CMANE SELECT
  • NP_000248.2:p.Tyr65His
  • LRG_384:g.7122T>C
  • NC_000014.8:g.23902749A>G
  • NM_000257.3:c.193T>C
Protein change:
Y65H
Links:
dbSNP: rs2138686468
NCBI 1000 Genomes Browser:
rs2138686468
Molecular consequence:
  • NM_000257.4:c.193T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004241237Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 18, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.

Chen J, Ma Y, Li H, Lin Z, Yang Z, Zhang Q, Wang F, Lin Y, Ye Z, Lin Y.

Orphanet J Rare Dis. 2022 May 7;17(1):183. doi: 10.1186/s13023-022-02348-z.

PubMed [citation]
PMID:
35526016
PMCID:
PMC9077868

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004241237.1

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

Description

Variant summary: MYH7 c.193T>C (p.Tyr65His) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251254 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.193T>C has been reported in the literature in individual affected with ARVC/D in which the variant did not segregate with disease in the family (Chen_2022). This report does not provide unequivocal conclusions about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 35526016). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024