NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) AND Perrault syndrome 3

Clinical significance:Likely pathogenic (Last evaluated: May 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001004790.1

Allele description [Variation Report for NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)]

NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)

Gene:
CLPP:caseinolytic mitochondrial matrix peptidase proteolytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)
HGVS:
  • NC_000019.10:g.6361903G>C
  • NG_033887.1:g.5452G>C
  • NM_006012.4:c.233G>CMANE SELECT
  • NP_006003.1:p.Arg78Pro
  • LRG_1402t1:c.233G>C
  • LRG_1402:g.5452G>C
  • LRG_1402p1:p.Arg78Pro
  • NC_000019.9:g.6361914G>C
  • NM_006012.2:c.233G>C
Protein change:
R78P
Links:
dbSNP: rs1599193093
NCBI 1000 Genomes Browser:
rs1599193093
Molecular consequence:
  • NM_006012.4:c.233G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Perrault syndrome 3 (PRLTS3)
Identifiers:
MONDO: MONDO:0013588; MedGen: C3808414; Orphanet: 2855; OMIM: 614129

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001164276Laboratory of Prof. Karen Avraham,Tel Aviv Universitycriteria provided, single submitter
Likely pathogenic
(May 7, 2018)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Jewish Ashkenazigermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Prof. Karen Avraham,Tel Aviv University, SCV001164276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Jewish Ashkenazinot providednot providednot providedresearch PubMed (1)

Description

Recessive, compound heterozygous with NM_00601.2:[c.173T>G]; congenital, profound HL; auditory neropathy

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

Last Updated: Oct 7, 2021

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