NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) AND Rhizomelic chondrodysplasia punctata type 1

Clinical significance:Likely pathogenic (Last evaluated: Oct 11, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000502761.1

Allele description [Variation Report for NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)]

NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)

Gene:
PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
HGVS:
  • NC_000006.12:g.136869897T>C
  • NG_008462.1:g.52318T>C
  • NM_000288.4:c.641T>CMANE SELECT
  • NP_000279.1:p.Leu214Pro
  • NC_000006.11:g.137191035T>C
  • NM_000288.3:c.641T>C
Protein change:
L214P
Links:
dbSNP: rs1554333880
NCBI 1000 Genomes Browser:
rs1554333880
Molecular consequence:
  • NM_000288.4:c.641T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
Synonyms:
Chondrodysplasia punctata rhizomelic form; Chondrodystrophia calcificans punctata; PEROXISOME BIOGENESIS DISORDER 9
Identifiers:
MONDO: MONDO:0008972; MedGen: C1859133; Orphanet: 177; OMIM: 215100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000596395Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely pathogenic
(Oct 11, 2016)
germlineclinical testing

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

Summary from all submissions

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

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 Genetic Services Laboratory, University of Chicago, SCV000596395.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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