m.956C>T AND AllHighlyPenetrant

Clinical significance:Uncertain significance (Last evaluated: Jan 8, 2013)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035057.1

Allele description [Variation Report for m.956C>T]

Gene:
MT-RNR1:mitochondrially encoded 12S RNA [Gene - OMIM]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.956C>T
HGVS:
NC_012920.1:m.956C>T
Links:
dbSNP: 397515729
NCBI 1000 Genomes Browser:
rs397515729
Observations:
1

Condition(s)

Name:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000058697Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineclassified by single submittervariant of unknown significance
(Jan 8, 2013)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000058697.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The 956C>T variant in MTRNR1 has not been identified by our laboratory but has been reported once in a publically available database (http://mitolsdb.igib.res.in). Mitochondrial variants follow a maternal inheritance pattern. Although penetrance of mitochondrial variants can be reduced, given the lack of reported family history of hearing loss in this family and no data to support a pathogenic role, we would lean towards a more likely benign role for this variant. However, a conclusive interpretation is not possible.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providedassert pathogenicitynot providednot provided1not provided

Last Updated: Jun 5, 2014

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