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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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760360Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760360.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023