NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) AND Retinal disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 1, 2025
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:: RCV006454638.1

Allele description [Variation Report for NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)]

NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)

Genes:

IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
LOC105371046:uncharacterized LOC105371046 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)

HGVS:

NC_000016.10:g.1592176C>T
NG_032783.1:g.24933G>A
NM_014714.4:c.634G>AMANE SELECT
NP_055529.2:p.Gly212Arg
NC_000016.9:g.1642177C>T
NM_014714.3:c.634G>A

Protein change:

G212R; GLY212ARG

Links:

OMIM: 614620.0005; dbSNP: rs201188361

Molecular consequence:

NM_014714.4:c.634G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal disorder
Synonyms:: Retinopathy; Retinopathies; Retinal Diseases; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0005283; MedGen: C0035309; Human Phenotype Ontology: HP:0000488

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV007338513	Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	criteria provided, single submitter (ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 v1.2)	Likely pathogenic (Dec 1, 2025)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV007338513

Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub

criteria provided, single submitter

(ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 v1.2)

Likely pathogenic
(Dec 1, 2025)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub, SCV007338513.1

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

Description

PM2_moderate, PP3_supporting, PS3_moderate, PM3_moderate

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

Last Updated: Aug 16, 2026

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