NC_012920.1(MT-ATP8):m.8528T>C AND Histiocytoid cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 2019
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:
RCV000854219.1

Allele description [Variation Report for NC_012920.1(MT-ATP8):m.8528T>C]

NC_012920.1(MT-ATP8):m.8528T>C

Genes:
MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]
MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ATP8):m.8528T>C
Other names:
W55R; M1T
HGVS:
NC_012920.1:m.8528T>C
Protein change:
MET1THR
Links:
OMIM: 516060.0010; OMIM: 516070.0003; dbSNP: rs387906422
NCBI 1000 Genomes Browser:
rs387906422

Condition(s)

Name:
Histiocytoid cardiomyopathy
Synonyms:
Infantile histiocytoid cardiomyopathy; Foamy myocardial transformation of infancy
Identifiers:
MONDO: MONDO:0010771; MedGen: C1708371; Orphanet: 137675; OMIM: 500000; Human Phenotype Ontology: HP:0005152

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000997252Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))		Pathogenic
(Oct 17, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ.

J Med Genet. 2009 May;46(5):308-14. doi: 10.1136/jmg.2008.063149. Epub 2009 Feb 2.

PubMed [citation]
PMID:
19188198

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y.

Int J Cardiol. 2016 Mar 15;207:203-5. doi: 10.1016/j.ijcard.2016.01.026. Epub 2016 Jan 7. No abstract available.

PubMed [citation]
PMID:
26803244

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000997252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The NC_012920.1:m.8528T>C (YP_003024031.1:p.Met1Thr) variant in MTATP6 gene (also (YP_003024030.1:p.Trp55Arg) variant in MTATP8 gene) is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS3, PM8, PM9, PP4, PP6.

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

Last Updated: May 1, 2024