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NM_000180.4(GUCY2D):c.1750-6T>C AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 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:
RCV002572420.3

Allele description [Variation Report for NM_000180.4(GUCY2D):c.1750-6T>C]

NM_000180.4(GUCY2D):c.1750-6T>C

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.4(GUCY2D):c.1750-6T>C
HGVS:
  • NC_000017.11:g.8012138T>C
  • NG_009092.1:g.14469T>C
  • NM_000180.4:c.1750-6T>CMANE SELECT
  • NC_000017.10:g.7915456T>C
Molecular consequence:
  • NM_000180.4:c.1750-6T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cone-rod dystrophy 6 (CORD6)
Synonyms:
Retinal cone dystrophy 2; Cone dystrophy progressive
Identifiers:
MONDO: MONDO:0011143; MedGen: C1866293; Orphanet: 1872; OMIM: 601777
Name:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002930374Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 12, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002930374.2

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

Description

Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has been observed in individual(s) with clinical features of autosomal dominant GUCY2D-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the GUCY2D gene. It does not directly change the encoded amino acid sequence of the GUCY2D protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024