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NM_000375.3(UROS):c.710T>C (p.Leu237Pro) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 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:
RCV001999894.4

Allele description [Variation Report for NM_000375.3(UROS):c.710T>C (p.Leu237Pro)]

NM_000375.3(UROS):c.710T>C (p.Leu237Pro)

Gene:
UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.2
Genomic location:
Preferred name:
NM_000375.3(UROS):c.710T>C (p.Leu237Pro)
HGVS:
  • NC_000010.11:g.125788956A>G
  • NG_011557.2:g.39313T>C
  • NM_000375.3:c.710T>CMANE SELECT
  • NM_001324036.2:c.791T>C
  • NM_001324037.2:c.710T>C
  • NM_001324038.2:c.629T>C
  • NP_000366.1:p.Leu237Pro
  • NP_001310965.1:p.Leu264Pro
  • NP_001310966.1:p.Leu237Pro
  • NP_001310967.1:p.Leu210Pro
  • LRG_1081t1:c.710T>C
  • LRG_1081:g.39313T>C
  • LRG_1081p1:p.Leu237Pro
  • NC_000010.10:g.127477525A>G
  • NR_136675.2:n.785T>C
  • NR_136676.2:n.1212T>C
  • NR_136678.2:n.696T>C
Protein change:
L210P
Links:
dbSNP: rs777433697
NCBI 1000 Genomes Browser:
rs777433697
Molecular consequence:
  • NM_000375.3:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324036.2:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324037.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324038.2:c.629T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136675.2:n.785T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136676.2:n.1212T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136678.2:n.696T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002233171Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 27, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.

Fortian A, Castaño D, Ortega G, Laín A, Pons M, Millet O.

Biochemistry. 2009 Jan 20;48(2):454-61. doi: 10.1021/bi801731q.

PubMed [citation]
PMID:
19099412

Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.

Wiederholt T, Poblete-Gutiérrez P, Gardlo K, Goerz G, Bolsen K, Merk HF, Frank J.

Physiol Res. 2006;55 Suppl 2:S85-92.

PubMed [citation]
PMID:
17298225
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002233171.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects UROS function (PMID: 19099412). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individuals with congenital erythropoietic porphyria (PMID: 17298225, 22350154, 22816431). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs777433697, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 237 of the UROS protein (p.Leu237Pro).

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

Last Updated: Sep 29, 2024