NM_014588.6(VSX1):c.655T>G (p.Trp219Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 20, 2024
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:
RCV004688677.1

Allele description [Variation Report for NM_014588.6(VSX1):c.655T>G (p.Trp219Gly)]

NM_014588.6(VSX1):c.655T>G (p.Trp219Gly)

Gene:
VSX1:visual system homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p11.21
Genomic location:
Preferred name:
NM_014588.6(VSX1):c.655T>G (p.Trp219Gly)
HGVS:
  • NC_000020.11:g.25077838A>C
  • NG_008101.3:g.9344T>G
  • NM_001256271.2:c.627+991T>G
  • NM_001256272.2:c.655T>G
  • NM_001378633.1:c.-39T>G
  • NM_014588.6:c.655T>GMANE SELECT
  • NP_001243201.1:p.Trp219Gly
  • NP_055403.2:p.Trp219Gly
  • NC_000020.10:g.25058474A>C
  • NM_014588.4:c.655T>G
  • NR_045948.2:n.700T>G
  • NR_165181.2:n.547T>G
  • NR_165182.2:n.215T>G
  • NR_165183.2:n.215T>G
Protein change:
W219G
Molecular consequence:
  • NM_001378633.1:c.-39T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001256271.2:c.627+991T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256272.2:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014588.6:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045948.2:n.700T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165181.2:n.547T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165182.2:n.215T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165183.2:n.215T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005181474Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 20, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005181474.1

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

Description

The c.655T>G (p.W219G) alteration is located in exon 4 (coding exon 4) of the VSX1 gene. This alteration results from a T to G substitution at nucleotide position 655, causing the tryptophan (W) at amino acid position 219 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024