NM_182894.3(VSX2):c.862C>T (p.Arg288Trp) AND multiple conditions

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Sep 20, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV002504392.2

Allele description [Variation Report for NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)]

NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)

Gene:

VSX2:visual system homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)

HGVS:

NC_000014.9:g.74260695C>T
NG_013092.1:g.26224C>T
NM_182894.3:c.862C>TMANE SELECT
NP_878314.1:p.Arg288Trp
NC_000014.8:g.74727398C>T

Protein change:

R288W

Links:

dbSNP: rs76055170

NCBI 1000 Genomes Browser:

rs76055170

Molecular consequence:

NM_182894.3:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Isolated microphthalmia 2
Identifiers:: MONDO: MONDO:0012409; MedGen: C1864720; Orphanet: 2542; OMIM: 610093

Name:: Microphthalmia, isolated, with coloboma 3 (MCOPCB3)
Synonyms:: MICROPHTHALMIA/COLOBOMA 3; MICROPHTHALMIA, COLOBOMATOUS, 3
Identifiers:: MONDO: MONDO:0012408; MedGen: C1864721; Orphanet: 98938; OMIM: 610092

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002815327	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 28, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005328749	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 20, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002815327

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 28, 2021)

unknown

clinical testing

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

SCV005328749

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 20, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV002815327.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From 3billion, SCV005328749.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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