NM_005262.3(GFER):c.575A>G (p.Asp192Gly) AND Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001542783.2

Allele description [Variation Report for NM_005262.3(GFER):c.575A>G (p.Asp192Gly)]

NM_005262.3(GFER):c.575A>G (p.Asp192Gly)

Gene:

GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_005262.3(GFER):c.575A>G (p.Asp192Gly)

HGVS:

NC_000016.10:g.1985985A>G
NG_016288.1:g.6837A>G
NM_005262.3:c.575A>GMANE SELECT
NP_005253.3:p.Asp192Gly
NC_000016.9:g.2035986A>G

Protein change:

D192G

Links:

dbSNP: rs1363034255

NCBI 1000 Genomes Browser:

rs1363034255

Molecular consequence:

NM_005262.3:c.575A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Synonyms:: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; Myopathy with cataract and combined respiratory-chain deficiency
Identifiers:: MONDO: MONDO:0013116; MedGen: C2751320; Orphanet: 330054; OMIM: 613076

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760360	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760360

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Pathogenic

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 Genomics England Pilot Project, Genomics England, SCV001760360.1

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

#	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: Dec 24, 2023

ClinVar

Relating variation to medicine