NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Dec 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000180145.5

Allele description [Variation Report for NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)]

NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
HGVS:
  • NC_000001.11:g.94080705G>A
  • NG_009073.1:g.45445C>T
  • NM_000350.3:c.872C>TMANE SELECT
  • NP_000341.2:p.Pro291Leu
  • NC_000001.10:g.94546261G>A
  • NM_000350.2:c.872C>T
Protein change:
P291L
Links:
dbSNP: rs190540405
NCBI 1000 Genomes Browser:
rs190540405
Molecular consequence:
  • NM_000350.3:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232533EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 19, 2014)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001105724Invitaecriteria provided, single submitter
Likely benign
(Oct 19, 2020)
germlineclinical testing

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

SCV001773177GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 30, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Outcome of ABCA4 microarray screening in routine clinical practice.

Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB.

Mol Vis. 2009 Dec 20;15:2841-7.

PubMed [citation]
PMID:
20029649
PMCID:
PMC2796636

Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Roberts LJ, Nossek CA, Greenberg LJ, Ramesar RS.

Mol Vis. 2012;18:280-9. Epub 2012 Feb 1. Erratum in: Mol Vis. 2013;19:1847.

PubMed [citation]
PMID:
22328824
PMCID:
PMC3275638
See all PubMed Citations (3)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232533.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Invitae, SCV001105724.3

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

From GeneDx, SCV001773177.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in patients with a broad range of ABCA4-related disorders (Early-onset Stargardt disease, Stargardt macular dystrophy, Cone-rod dystrophy, Macular dystrophy) in published literature (Ernest et al., 2009; Jiang et al., 2016; Birtel et al., 2018; Roberts et al., 2012; Lambertus et al., 2015); Identified in patients with ABCA4-related disorders who also harbored multiple other ABCA4 variants, phase unknown in published literature (Jiang et al., 2016; Birtel et al., 2018; Lambertus et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20029649, 31456290, 26780318, 29925512, 29555955, 30903310, 25444351, 22328824)

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

Last Updated: Aug 17, 2021

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