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NM_000288.4(PEX7):c.554T>C (p.Val185Ala) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 31, 2021
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:
RCV002497572.1

Allele description [Variation Report for NM_000288.4(PEX7):c.554T>C (p.Val185Ala)]

NM_000288.4(PEX7):c.554T>C (p.Val185Ala)

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.554T>C (p.Val185Ala)
HGVS:
  • NC_000006.12:g.136866654T>C
  • NG_008462.1:g.49075T>C
  • NM_000288.4:c.554T>CMANE SELECT
  • NP_000279.1:p.Val185Ala
  • NC_000006.11:g.137187792T>C
  • NC_000006.11:g.137187792T>C
  • NM_000288.3:c.554T>C
Protein change:
V185A
Links:
dbSNP: rs1424846175
NCBI 1000 Genomes Browser:
rs1424846175
Molecular consequence:
  • NM_000288.4:c.554T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phytanic acid storage disease
Synonyms:
HMSN IV; REFSUM DISEASE, CLASSIC; Disorder of cornification 11 (phytanic acid type); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009958; MedGen: C0034960; Orphanet: 773; OMIM: 266500
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
Name:
Peroxisome biogenesis disorder 9B
Synonyms:
PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL; Refsum disease, adult, 2
Identifiers:
MONDO: MONDO:0013945; MedGen: C2749346; Orphanet: 773; OMIM: 614879

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002812761Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 31, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002812761.1

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

Last Updated: Sep 29, 2024