NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) AND Occult macular dystrophy

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000277090.1

Allele description [Variation Report for NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)]

NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)

Gene:
RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)
HGVS:
  • NC_000008.11:g.10622877_10622878insA
  • NG_028035.1:g.37230_37231insT
  • NM_178857.6:c.324_325insTMANE SELECT
  • NP_849188.4:p.Pro109fs
  • NC_000008.10:g.10480387_10480388insA
  • NM_178857.5:c.324_325insT
Protein change:
P109fs
Links:
dbSNP: rs138816053
NCBI 1000 Genomes Browser:
rs138816053
Molecular consequence:
  • NM_178857.6:c.324_325insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Occult macular dystrophy (OCMD)
Synonyms:
OMD; OCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0013316; MedGen: C3150833; Orphanet: 247834; OMIM: 613587; Human Phenotype Ontology: HP:0030636

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267481Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Uncertain significance
(Mar 18, 2016)
germlinereference population

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

SCV000471258Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
East Asiangermlineunknown2not providednot providednot providednot providedreference population

Citations

PubMed

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.

Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17.

PubMed [citation]
PMID:
23281133

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 Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267481.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian2not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000471258.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 31, 2021

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