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NM_000554.6(CRX):c.76_80del (p.Met26fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 21, 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:
RCV001365217.6

Allele description [Variation Report for NM_000554.6(CRX):c.76_80del (p.Met26fs)]

NM_000554.6(CRX):c.76_80del (p.Met26fs)

Gene:
CRX:cone-rod homeobox [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_000554.6(CRX):c.76_80del (p.Met26fs)
HGVS:
  • NC_000019.10:g.47834519_47834523del
  • NG_008605.1:g.17678_17682del
  • NM_000554.6:c.76_80delMANE SELECT
  • NP_000545.1:p.Met26fs
  • NC_000019.9:g.48337776_48337780del
Protein change:
M26fs
Links:
dbSNP: rs2123738324
NCBI 1000 Genomes Browser:
rs2123738324
Molecular consequence:
  • NM_000554.6:c.76_80del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Leber congenital amaurosis 7 (LCA7)
Identifiers:
MONDO: MONDO:0013449; MedGen: C3151192; Orphanet: 65; OMIM: 613829
Name:
Cone-rod dystrophy 2 (CORD2)
Synonyms:
CONE-ROD RETINAL DYSTROPHY; Cone-rod retinal dystrophy 2
Identifiers:
MONDO: MONDO:0007362; MedGen: C3489532; Orphanet: 1872; OMIM: 120970

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001561480Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jul 21, 2023)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM.

J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11.

PubMed [citation]
PMID:
27208204
PMCID:
PMC5106339

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z, Xiao X, Li S, Sun W, Zhang Q.

Exp Eye Res. 2019 Dec;189:107846. doi: 10.1016/j.exer.2019.107846. Epub 2019 Oct 15.

PubMed [citation]
PMID:
31626798
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001561480.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant has not been reported in the literature in individuals affected with CRX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met26Profs*43) in the CRX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRX are known to be pathogenic (PMID: 27208204, 31626798, 35934205). ClinVar contains an entry for this variant (Variation ID: 1056395). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024