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NM_000276.4(OCRL):c.577_578del (p.Glu193fs) AND Lowe syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 27, 2023
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:
RCV003224765.1

Allele description

NM_000276.4(OCRL):c.577_578del (p.Glu193fs)

Gene:
OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq26.1
Genomic location:
Preferred name:
NM_000276.4(OCRL):c.577_578del (p.Glu193fs)
HGVS:
  • NC_000023.11:g.129558856_129558857del
  • NG_008638.1:g.23582_23583del
  • NM_000276.4:c.577_578delMANE SELECT
  • NM_001318784.2:c.580_581del
  • NM_001587.4:c.577_578del
  • NP_000267.2:p.Glu193fs
  • NP_001305713.1:p.Glu194fs
  • NP_001578.2:p.Glu193fs
  • NC_000023.10:g.128692833_128692834del
Protein change:
E193fs
Molecular consequence:
  • NM_000276.4:c.577_578del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318784.2:c.580_581del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001587.4:c.577_578del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Lowe syndrome (OCRL)
Synonyms:
LOWE OCULOCEREBRORENAL SYNDROME; PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY; Oculocerebrorenal Syndrome
Identifiers:
MONDO: MONDO:0010645; MedGen: C0028860; Orphanet: 534; OMIM: 309000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003919745Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Apr 27, 2023)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV003919745.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The proven change does not occur in the general population (gnomAD) (as of April 17, 2023). It has not yet been described in the literature. The variant represents a shift in the reading frame with a subsequent stop codon. This usually leads either to premature termination of translation or a so-called "nonsense-mediated mRNA decay". In both cases, there is a loss of function of the protein. Intolerance to haploinsufficiency has been described as a pathomechanism for the gene examined. Therefore, a pathogenetic relevance can be assumed with high probability. The variant is currently to be regarded as a "likely pathogenic variant" (ACMG criteria).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 13, 2025